A neurocognitive perspective on developmental disregard in children with hemiplegic cerebral palsy

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Houwink, A.; Aarts, P.B.M.; Geurts, A.C.H.; Steenbergen, B.

2011-01-01

A common problem in children with hemiplegic cerebral palsy (CP) is the asymmetrical development of arm and hand capacity caused by the lack of use of the affected upper limb, or developmental disregard. In this paper, we provide a neuropsychological model that relates developmental disregard to

A Neurocognitive Perspective on Developmental Disregard in Children with Hemiplegic Cerebral Palsy

Science.gov (United States)

Houwink, Annemieke; Aarts, Pauline B. M.; Geurts, Alexander C. H.; Steenbergen, Bert

2011-01-01

A common problem in children with hemiplegic cerebral palsy (CP) is the asymmetrical development of arm and hand capacity caused by the lack of use of the affected upper limb, or developmental disregard. In this paper, we provide a neuropsychological model that relates developmental disregard to attentional processes and motor learning. From this…

Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

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Loredana Leo

2011-06-01

Full Text Available Familial hemiplegic migraine type 2 (FHM2 is an autosomal dominant form of migraine with aura that is caused by mutations of the α2-subunit of the Na,K-ATPase, an isoform almost exclusively expressed in astrocytes in the adult brain. We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene. Homozygous Atp1a2(R887/R887 mutants died just after birth, while heterozygous Atp1a2(+/R887 mice showed no apparent clinical phenotype. The mutant α2 Na,K-ATPase protein was barely detectable in the brain of homozygous mutants and strongly reduced in the brain of heterozygous mutants, likely as a consequence of endoplasmic reticulum retention and subsequent proteasomal degradation, as we demonstrate in transfected cells. In vivo analysis of cortical spreading depression (CSD, the phenomenon underlying migraine aura, revealed a decreased induction threshold and an increased velocity of propagation in the heterozygous FHM2 mouse. Since several lines of evidence involve a specific role of the glial α2 Na,K pump in active reuptake of glutamate from the synaptic cleft, we hypothesize that CSD facilitation in the FHM2 mouse model is sustained by inefficient glutamate clearance by astrocytes and consequent increased cortical excitatory neurotransmission. The demonstration that FHM2 and FHM1 mutations share the ability to facilitate induction and propagation of CSD in mouse models further support the role of CSD as a key migraine trigger.

Robotic Mirror Therapy System for Functional Recovery of Hemiplegic Arms.

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Beom, Jaewon; Koh, Sukgyu; Nam, Hyung Seok; Kim, Wonshik; Kim, Yoonjae; Seo, Han Gil; Oh, Byung-Mo; Chung, Sun Gun; Kim, Sungwan

2016-08-15

Mirror therapy has been performed as effective occupational therapy in a clinical setting for functional recovery of a hemiplegic arm after stroke. It is conducted by eliciting an illusion through use of a mirror as if the hemiplegic arm is moving in real-time while moving the healthy arm. It can facilitate brain neuroplasticity through activation of the sensorimotor cortex. However, conventional mirror therapy has a critical limitation in that the hemiplegic arm is not actually moving. Thus, we developed a real-time 2-axis mirror robot system as a simple add-on module for conventional mirror therapy using a closed feedback mechanism, which enables real-time movement of the hemiplegic arm. We used 3 Attitude and Heading Reference System sensors, 2 brushless DC motors for elbow and wrist joints, and exoskeletal frames. In a feasibility study on 6 healthy subjects, robotic mirror therapy was safe and feasible. We further selected tasks useful for activities of daily living training through feedback from rehabilitation doctors. A chronic stroke patient showed improvement in the Fugl-Meyer assessment scale and elbow flexor spasticity after a 2-week application of the mirror robot system. Robotic mirror therapy may enhance proprioceptive input to the sensory cortex, which is considered to be important in neuroplasticity and functional recovery of hemiplegic arms. The mirror robot system presented herein can be easily developed and utilized effectively to advance occupational therapy.

Modification of hemiplegic compensatory gait pattern by symmetry-based motion controller of HAL.

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Kawamoto, Hiroaki; Kadone, Hideki; Sakurai, Takeru; Sankai, Yoshiyuki

2015-01-01

As one of several characteristics of hemiplegic patients after stroke, compensatory gait caused by affected limb is often seen. The purpose of this research is to apply a symmetry-based controller of a wearable type lower limb robot, Hybrid Assistive Limb (HAL) to hemiplegic patients with compensatory gait, and to investigate improvement of gait symmetry. The controller is designed respectively for swing phase and support phase according to characteristics of hemiplegic gait pattern. The controller during swing phase stores the motion of the unaffected limb and then provides motion support on the affected limb during the subsequent swing using the stored pattern to realize symmetric gait based on spontaneous limb swing. Moreover, the controller during support phase provides motion to extend hip and knee joints to support wearer's body. Clinical tests were conducted in order to assess the modification of gait symmetry. Our case study involved participation of one chronic stroke patient who performs abnormally-compensatory gait for both of the affected and unaffected limbs. As a result, the patient's gait symmetry was improved by providing motion support during the swing phase on the affected side and motion constraint during the support phase on the unaffected side. The study showed promising basis for the effectiveness of the controller for the future clinical study.

Perfusion-weighted MR imaging in persistent hemiplegic migraine

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Mourand, Isabelle; Menjot de Champfleur, Nicolas; Carra-Dalliere, Clarisse; Le Bars, Emmanuelle; Bonafe, Alain; Thouvenot, Eric [Hopital Gui de Chauliac, Service de Neuroradiologie, Montpellier (France); Roubertie, Agathe [Hopital Gui de Chauliac, Service de Neuropediatrie, Montpellier (France)

2012-03-15

Hemiplegic migraine is a rare type of migraine that has an aura characterized by the presence of motor weakness, which may occasionally last up to several days, and then resolve without sequela. Pathogenesis of migraine remains unclear and, recently, perfusion-weighted imaging (PWI) has provided a non-invasive method to study hemodynamic changes during acute attacks. Two female patients were admitted in our hospital suffering from prolonged hemiparesis. In both cases, they underwent MRI examination using a 1.5 T magnet including axial diffusion-weighted and perfusion sequences. From each perfusion MRI acquisition two regions of interest were delineated on each hemisphere and, the index of flow, cerebral blood volume, mean transit time, and time to peak were recorded and asymmetry indices from each perfusion parameter were calculated. Perfusion alterations were detected during the attacks. In one case, we observed, after 3 h of left hemiparesia, hypoperfusion of the right hemisphere. In the other case, who presented a familial hemiplegic migraine attack, on the third day of a persistent aura consisting of right hemiplegia and aphasia, PWI revealed hyperperfusion of the left hemisphere. Asymmetry indices for temporal parameters (mean transit time and time to peak) were the most sensitive. These findings resolved spontaneously after the attacks without any permanent sequel or signs of cerebral ischemia on follow-up MRI. PWI should be indicated for patients with migraine attacks accompanied by auras to assess the sequential changes in cerebral perfusion and to better understand its pathogenesis. (orig.)

Perfusion-weighted MR imaging in persistent hemiplegic migraine

International Nuclear Information System (INIS)

Mourand, Isabelle; Menjot de Champfleur, Nicolas; Carra-Dalliere, Clarisse; Le Bars, Emmanuelle; Bonafe, Alain; Thouvenot, Eric; Roubertie, Agathe

2012-01-01

Hemiplegic migraine is a rare type of migraine that has an aura characterized by the presence of motor weakness, which may occasionally last up to several days, and then resolve without sequela. Pathogenesis of migraine remains unclear and, recently, perfusion-weighted imaging (PWI) has provided a non-invasive method to study hemodynamic changes during acute attacks. Two female patients were admitted in our hospital suffering from prolonged hemiparesis. In both cases, they underwent MRI examination using a 1.5 T magnet including axial diffusion-weighted and perfusion sequences. From each perfusion MRI acquisition two regions of interest were delineated on each hemisphere and, the index of flow, cerebral blood volume, mean transit time, and time to peak were recorded and asymmetry indices from each perfusion parameter were calculated. Perfusion alterations were detected during the attacks. In one case, we observed, after 3 h of left hemiparesia, hypoperfusion of the right hemisphere. In the other case, who presented a familial hemiplegic migraine attack, on the third day of a persistent aura consisting of right hemiplegia and aphasia, PWI revealed hyperperfusion of the left hemisphere. Asymmetry indices for temporal parameters (mean transit time and time to peak) were the most sensitive. These findings resolved spontaneously after the attacks without any permanent sequel or signs of cerebral ischemia on follow-up MRI. PWI should be indicated for patients with migraine attacks accompanied by auras to assess the sequential changes in cerebral perfusion and to better understand its pathogenesis. (orig.)

Arthur Simons (1877-1942) and Tonic Neck Reflexes With Hemiplegic "Mitbewegungen" (Associated Reactions): Cinematography From 1916-1919.

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Holdorff, Bernd

2016-01-01

Tonic neck reflexes were investigated by Rudolf Magnus and Adriaan de Kleijn in animals and men in 1912 and eventually by Arthur Simons, a neurologist in Berlin and coworker of Hermann Oppenheim. Simons studied these reflexes in hemiplegic patients, who were mainly victims of World War I. This work became his most important contribution and remained unsurpassed for many years. The film (Filmarchiv, Bundesarchiv [Film Archive, National Archive] Berlin) with Simons as an examiner shows 11 war casualties with brain lesions that occurred between 1916 and 1919. The injuries reveal asymmetric neck reflexes with "Mitbewegungen," that is, flexion or extension on the hemiplegic side. Mitbewegungen is identical with Francis Walshe's "associated reactions" caused by neck rotation and/or by cocontraction of the nonaffected extremities, for example, by closing of the fist (Walshe). The knowledge of the neck reflexes is important in acute neurology and in rehabilitation therapy of hemiplegics for antispastic positions. Simons' investigations were conducted in the early era of increasing use of cinematography in medical studies. The film had been nearly forgotten until its rediscovery in 2010.

Computed tomographic findings of leg muscles in the hemiplegics due to cerebrovascular accidents

International Nuclear Information System (INIS)

Odajima, Natsu; Ishiai, Sumio; Kotera, Minoru; Furukawa, Tetsuo; Tsukagoshi, Hiroshi.

1986-01-01

The computed tomography (CT) scan was performed in 52 hemiplegics due to cerebrovascular accidents and 12 normal controls on the mid-portion of the thigh and the largest-diameter section of the calf. Muscle size and average CT density of the muscle were measured. The salient feature was hypertrophic gracilis muscle of the hemiplegic side. Other muscles were more atrophied with lower CT density compared with those of the contralateral side. The size of the quadriceps muscle was especially small. The ratio of the quadriceps to all the thigh muscles in cross section was significantly smaller in affected side of hemiplegics than that of normal controls. This was observed even in normal side of the hemiplegics but the ratios of adductor and flexor muscles of the thigh showed no difference. Hypertrophy of gracilis muscle with high CT density was observed only on hemiplegic side. Muscle atrophies were marked in non-ambulatory patients. The ratios of quadriceps and saltorius muscles of thigh in non-ambulatory patients were significantly smaller than those of ambulatory patients. It could not be detected that there is relationship of the sevirity of the muscle atrophy and parietal lobe dysfunction. This atrophy considered to be the result of disuse of the paralyzed leg and pyramidal tract dysfunction. (author)

Pediatric hemiplegic migraine: susceptibility weighted and MR perfusion imaging abnormality

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Altinok, Deniz; Agarwal, Ajay [Children' s Hospital of Michigan, Department of Radiology, Detroit, MI (United States); Ascadi, Gyula; Luat, Aimee; Tapos, Daniela [Children' s Hospital of Michigan, Department of Neurology, Detroit, MI (United States)

2010-12-15

We report on an 11-year-old girl suffering from a typical attack of hemiplegic migraine with characteristic abnormalities in perfusion MR and susceptibility-weighted MR imaging findings. The imaging abnormalities were resolved 48 h after the attack. Susceptibility-weighted MR imaging findings correlated well with the MR perfusion, thus it can be used along with conventional MRI for evaluation of children with complex migraine attacks. Susceptibility-weighted MR imaging might have a diagnostic role in assessing the vascular events in hemiplegic migraine. (orig.)

Pediatric hemiplegic migraine: susceptibility weighted and MR perfusion imaging abnormality

International Nuclear Information System (INIS)

Altinok, Deniz; Agarwal, Ajay; Ascadi, Gyula; Luat, Aimee; Tapos, Daniela

2010-01-01

We report on an 11-year-old girl suffering from a typical attack of hemiplegic migraine with characteristic abnormalities in perfusion MR and susceptibility-weighted MR imaging findings. The imaging abnormalities were resolved 48 h after the attack. Susceptibility-weighted MR imaging findings correlated well with the MR perfusion, thus it can be used along with conventional MRI for evaluation of children with complex migraine attacks. Susceptibility-weighted MR imaging might have a diagnostic role in assessing the vascular events in hemiplegic migraine. (orig.)

Brain atrophy following hemiplegic migraine attacks

NARCIS (Netherlands)

Pelzer, Nadine; Hoogeveen, Evelien S.; Ferrari, Michel D.; Poll-The, Bwee Tien; Kruit, Mark C.; Terwindt, Gisela M.

2017-01-01

Background Patients with hemiplegic migraine (HM) may sometimes develop progressive neurological deterioration of which the pathophysiology is unknown. Patient We report a 16-year clinical and neuroradiological follow-up of a patient carrying a de novo p.Ser218Leu CACNA1A HM mutation who had nine

The effects of "Constraint-Induced Movement Therapy" on fine motor skills in children with hemiplegic cerebral palsy

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Abootalebi Sh

2010-05-01

Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Constraint-Induced movement therapy (CIMT is a promising treatment for improving upper limb function in adults after stroke and traumatic brain injury. It involves constraint of the less affected limb and intensive practice with the more affected limb. The purpose of this study on children with hemiplegic cerebral palsy (CP was to evaluate the effects of CIMT on upper extremity and to make a comparison with conventional treatment."n"nMethods: I a randomized clinical trial twelve children (seven females, five males; aged between 48 and 72 months with mean±standard deviation of 59.91±9.15mo were randomly assigned in two groups. An intensive occupational therapy program including five hours per day for 21 consecutive days was performed for all of them, while less affected limbs were placed in sling for immobilization. Before and after intervention, upper extremity function, spasticity, and motor neuron excitation were evaluated by means of peabody developmental motor scales, modified Ashworth scale, and H reflex and H/M ratio, respectively."n"nResults: The children who received CIMT did not improved their ability to use their hemiplegic hand significantly more than the children in the control group (p>0

Dual mobility total hip arthroplasty in hemiplegic patients

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Henawy Ayman T.

2017-01-01

Full Text Available Introduction: The rate of cerebrovascular insults is increasing, currently leaving many patients with difficulties to maintain their balance due to muscular weakness and/or poor central control. Those patients are at risk of dislocation when total hip arthroplasty (THA is planned. Instability remains the most significant issue after primary THA especially in such groups of patients. The risk is more pronounced when other factors are added such as, older age, femoral neck fractures, avascular necrosis and/or hip osteoarthritis. Dual mobility cup (DMC is considered as a prosthesis with higher inherent stability that may help in such situation. In this patient series, we aimed to evaluate stability, clinical and radiological results of dual mobility THA done on the weak limb of hemiplegic patients. Methods: Twenty-four consecutive hemiplegic patients have undergone DMC with a mean age of 68 years. The indication for surgery was hip osteoarthritis in one third of the patients and femoral neck fractures in the remaining patients. Those patients were capable of walking prior to hospital admission despite weakness. Those patients were observed postoperatively for at least one year. Clinical results and complications were recorded. Results: After a minimum of one year, 91.6% of the patients have satisfactory results. No cases of hip or intraprosthetic dislocation were observed. Discussion: Dual mobility THA in the hemiplegic patients provides both efficacy and stability with good functional results.

The Effects of Shoulder Slings on Balance in Patients With Hemiplegic Stroke

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Sohn, Min Kyun; Jee, Sung Ju; Hwang, Pyoungsik; Jeon, Yumi

2015-01-01

Objective To investigate the effects of a shoulder sling on balance in patients with hemiplegia. Methods Twenty-seven hemiplegic stroke patients (right 13, left 14) were enrolled in this study. The subjects' movement in their centers of gravity (COGs) during their static and dynamic balance tests was measured with their eyes open in each sling condition-without a sling, with Bobath's axillary support (Bobath sling), and with a simple arm sling. The percent times in quadrant, overall, anterior/posterior, and medial/lateral stability indexes were measured using a posturography platform (Biodex Balance System SD). Functional balance was evaluated using the Berg Balance Scale and the Trunk Impairment Scale. All balance tests were performed with each sling in random order. Results The COGs of right hemiplegic stroke patients and all hemiplegic stroke patients shifted to, respectively, the right and posterior quadrants during the static balance test without a sling (pBobath or the simple arm sling. There was no significant improvement in any stability index during either the static or the dynamic balance tests in any sling condition. Conclusion The right and posterior deviations of the hemiplegic stroke patients' COGs were maintained during the application of the shoulder slings, and there were no significant effects of the shoulder slings on the patients' balance in the standing still position. PMID:26798614

Comparison of Balance Abilities of Patients with Right and Left Hemiplegics Stroke

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Alireza Shamsoddini

2008-01-01

Full Text Available Objective: Improvement of independence of hemiplegics patient especially in balance maintenance is most significant aim of such rehabilitation. Areas of brain lesions in hemiplegics patient and also function of their right and left brain hemispheres were different. We study balance abilities in this two groups of patients. Materials & Methods: In this comparative and cross sectional study 30 patients with brain stroke were selected with non probability and simple selection in two groups by right hemiplegics (16 objects and left hemiplegics (14 objects. Ranges of Their age were 30 – 58 years and 6 months passed of stroke. The patient balance ability evaluated by Berg Balance Scale (B.B.S and Forward Functional Reach (F.F.R and data were analyzed by use of statistical tests such as: Kolmogorov – Smirnov, Independent T and paired T test. Results: According to results, average difference of two groups in (B.B.S test was significant (P=0.030 but average of score of right group (38/36 was more than left group (28/90. But in (F.F.R test, average difference between two groups wasn’t significant (P=0.841. Conclusion: According to results, balance especially dynamic balance was related to the side of lesion but in static balance, there was no difference between two groups. According to such results, we can consider good rehabilitation program for improvement of balance of such patients.

Peculiarities of Hemiplegic Migraine in Children

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S. L. Moiseeva

2015-01-01

Full Text Available The article describes the individual peculiarities of a rare disease — hemiplegic migraine — in 3 patients (two girls aged 2 and 14 years old and a boy of 16 years. In common clinical aspect there was a correlation between the migraine-attack and the slight head trauma in all patients. Attack symptoms were almost identical: hemiparesis, aphasia, ataxia. The family history for migraine was burdened in both girls. A genetic testing in the boy and in the smallest girl demonstrated CACNA1A gene mutation, in the teen girl — ATP1A2 gene mutation. The electroencephalograms in all patients during the acute phase presented signs of hemipcortical brain dysfunction. The magnetic resonance imaging revealed prominent but reversible hemicortical oedema. The repeated MRI studies diagnosed nonrelevant for this disease hemicortical atrophy (girl 2 years and atrophy of the cerebellum (the boy. Due to the rarity of the disease so far there are no clear guidelines for its treatment and prevention. In view of the pathogenesis for the prevention patients were prescribed medications changing the activity of cytoplasmic calcium and sodium canals.

[Spasticity and dynamic plantar pressure distribution measurements in hemiplegic spastic children].

Science.gov (United States)

Femery, V; Moretto, P; Renaut, H; Thévenon, A

2001-02-01

The aim of this study was to analyse the plantar pressure distribution in nine hemiplegic spastic children to illustrate the dynamic alteration during stance phase linked spasticity grade. The graduation of the lower limbs muscle tone related to the Aschworth spasticity scale enabled us to identify two groups of hemiplegics subjects. The groups Asch 1 and Asch 3 have respectively presented a low and a strong spasticity. The peak pressures during consecutive gait cycles were determined under the feet of 30 healthy subjects and two cerebral palsy groups using a wearable footprint analysis system. A statistical study showed a similarity between the two disabled groups. Peak pressures under the midfoot were significantly higher compared to the control group. While the plantar pressure distribution profile was specific for each group under all other anatomical structures. The significant alterations were observed under the forefoot and hallux. Spasticity modifies the foot contact to ground and leads to a specific plantar pressure distribution profile linked to the spasticity grade. The equinovarus with clawed toes deformity due to higher spasticity seems to be an important factor in terminal stance phase perturbations. However spastic hemiplegic subjects seem to adopt a gait pattern in agreement with stability optimization criteria.

Focal ischaemia caused by instability of cerebrovascular tone during attacks of hemiplegic migraine. A regional cerebral blood flow study

DEFF Research Database (Denmark)

Friberg, L; Olsen, T S; Roland, P E

1987-01-01

During the course of hemiplegic migraine in 3 patients, changes in regional cerebral blood flow (rCBF) were recorded by the intracarotid 133Xe method and a 254 multidetector camera covering one hemisphere. The rCBF measurements were performed in conjunction with cerebral angiography. During...... the patients developed transient motor and/or sensory deficits and subsequently severe headache. No signs of arterial occlusion were found. In the over and underperfused regions blood flow fluctuated rapidly because of instability of cerebrovascular tone, defined as transient constriction of the smallest...

The Effect of Rocker Bar Ankle Foot Orthosis on Functional Mobility in Post-Stroke Hemiplegic Patients

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Farzad Farmani

2015-09-01

Full Text Available Objectives: Ankle Foot Orthoses (AFOs are widely utilized to improve walking ability in hemiplegic patients. The present study aimed to evaluate the effect of Rocker bar Ankle Foot Orthosis (RAFO on functional mobility in post-stroke hemiplegic patients. Methods: Fifteen hemiplegic patients (men and women who were at least 6-months post-stroke and able to walk without assistive device for at least 10 meters voluntarily participated in this study. The patients were examined with and without RAFO. Their functional mobility was evaluated through 10-meter walk test and Timed Up and Go (TUG test. Also, paired t-test was used to analyze obtained data. Results: When patients used RAFO, their gait speed significantly increased (P<0.05. Also, the time of performing TUG test experienced a significant decrease using RAFO compared with utilizing shoe only (P<0.05. Discussion: RAFO led to a significant improvement in functional mobility in hemiplegic patient’s secondary to stroke. It seems that, it has been due to the positive effect of rocker modification on improving push off and transferring weight during stance phase of gait.

Relationship between the Berg Balance Scale and Static Balance Test in Hemiplegic Patients with Stroke

OpenAIRE

Suzuki, Makoto; Fujisawa, Hiroyuki; Machida, Yooichiro; Minakata, Shin

2013-01-01

[Purpose] The purpose of this study was to analyze the relationship between results of the Berg Balance Scale (BBS) and Static Balance Test (SBT) in hemiplegic patients with stroke. [Subjects] The subjects were 39 hemiplegic patients (25 men, 14 women; mean age, 69.4 ? 11.0?years) with stroke that had occurred within the preceding 6 months and who had good understanding of verbal instructions. [Methods] The SBT consists of five posture-holding tasks (sitting, stride standing, close standing, ...

The Influence of Laterality of Pharyngeal Bolus Passage on Dysphagia in Hemiplegic Stroke Patients

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Kim, Min Seok; Lee, Seong Jae; Seo, Dong Hyuk; Hyun, Jung Keun; Kim, Jae Il

2012-01-01

Objective To investigate swallowing laterality in hemiplegic patients with stroke and recovery of dysphagia according to the laterality. Method The sample was comprised of 46 dysphagic patients with hemiplegia after their first stroke. The sample's videofluoroscopic swallowing study (VFSS) was reviewed. Swallowing laterality was determined by the anterior-posterior view of VFSS. We measured width difference of barium sulfate liquid flow in the pharyngoesophageal segment. If there was double or more the width of that from the opposite width in the pharyngoesophageal segment more than twice on three trials of swallowing, then it was judged as having laterality. Subjects were assigned to no laterality (NL), laterality that is ipsilateral to hemiplegic side (LI), and laterality that is contralateral to hemiplegic side (LC) groups. We measured the following: prevalence of aspiration, the 8-point penetration-aspiration scale, and the functional dysphagia scale of the subjects at baseline and follow up. Results Laterality was observed in 45.7% of all patients. Among them, 52.4% were in the hemiplegic direction. There was no significant difference between groups at baseline in all measurements. When we compared the changes in all measurements on follow-up study, there were no significant differences between groups. Conclusion Through this study, we found that there was no significant relation between swallowing laterality and the severity or prognosis of swallowing difficulty. More studies for swallowing laterality on stroke patients will be needed. PMID:23185735

Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease

DEFF Research Database (Denmark)

Toustrup-Jensen, Mads Schak; Einholm, Anja P.; Schack, Vivien

The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of Na+,K+-ATPase α2 and α3 isoforms, expressed in glial and neuronal cells, respectively. Although these disorders......, addressing the question to what extent they cause a change of the intracellular Na+ and K+ concentrations ([Na+]i and [K+]i) in COS cells. C-terminal extension mutants generally showed dramatically reduced Na+ affinity without disturbance of K+ binding, as did other RDP mutants. No phosphorylation from ATP...

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Science.gov (United States)

Zarrei, Mehdi; Fehlings, Darcy L; Mawjee, Karizma; Switzer, Lauren; Thiruvahindrapuram, Bhooma; Walker, Susan; Merico, Daniele; Casallo, Guillermo; Uddin, Mohammed; MacDonald, Jeffrey R; Gazzellone, Matthew J; Higginbotham, Edward J; Campbell, Craig; deVeber, Gabrielle; Frid, Pam; Gorter, Jan Willem; Hunt, Carolyn; Kawamura, Anne; Kim, Marie; McCormick, Anna; Mesterman, Ronit; Samdup, Dawa; Marshall, Christian R; Stavropoulos, Dimitri J; Wintle, Richard F; Scherer, Stephen W

2018-02-01

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of "CNV-positive" trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system?

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Eyre, Janet A; Smith, Martin; Dabydeen, Lyvia; Clowry, Gavin J; Petacchi, Eliza; Battini, Roberta; Guzzetta, Andrea; Cioni, Giovanni

2007-11-01

Subjects with severe hemiplegic cerebral palsy have increased ipsilateral corticospinal projections from their noninfarcted cortex. We investigated whether their severe impairment might, in part, be caused by activity-dependent, competitive displacement of surviving contralateral corticospinal projections from the affected cortex by more active ipsilateral corticospinal projections from the nonaffected cortex, thereby compounding the impairment. Transcranial magnetic stimulation (TMS) characterized corticospinal tract development from each hemisphere over the first 2 years in 32 healthy children, 14 children with unilateral stroke, and 25 with bilateral lesions. Magnetic resonance imaging and anatomic studies compared corticospinal tract growth in 13 patients with perinatal stroke with 46 healthy subjects. Infants with unilateral lesions initially had responses after TMS of the affected cortex, which became progressively more abnormal, and seven were eventually lost. There was associated hypertrophy of the ipsilateral corticospinal axons projecting from the noninfarcted cortex. Magnetic resonance imaging and anatomic studies demonstrated hypertrophy of the corticospinal tract from the noninfarcted hemisphere. TMS findings soon after the stroke did not predict impairment; subsequent loss of responses and hypertrophy of ipsilateral corticospinal axons from the noninfarcted cortex predicted severe impairment at 2 years. Infants with bilateral lesions maintained responses to TMS from both hemispheres with a normal pattern of development. Rather than representing "reparative plasticity," increased ipsilateral projections from the noninfarcted cortex compound disability by competitively displacing surviving contralateral corticospinal projections from the infarcted cortex. This may provide a pathophysiological explanation for why signs of hemiplegic cerebral palsy appear late and progress over the first 2 years of life.

Diagnosis and treatment of the hemiplegic patient with brachial plexus injury.

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Meredith, J; Taft, G; Kaplan, P

1981-10-01

Brachial plexus injury was observed as a complication in 5 of 12 hemiplegic patients admitted over a 5-week period to an inpatient unit of the Rehabilitation Institute of Chicago. These patients exhibited unusual patterns of muscle atrophy and return of function in the impaired upper extremity. Occupational therapists may play an important part in the diagnosis and treatment of this complication of hemiplegia by promptly recognizing its subtle clinical signs and instituting appropriate therapy. Electromyography may be recommended to confirm this diagnosis. The treatment of choice is to maintain correct positioning of the limb both day and night, to use facilitation techniques for specific muscles in order to prevent atrophy, and to maintain passive range of motion as much as possible. Prevention of brachial plexus injury depends largely on the education of patient, family, and staff as to the potential hazards to a frail extremity that has no protective responses.

Prevention and management of shoulder pain in the hemiplegic patient.

Science.gov (United States)

Page, Tamara; Lockwood, Craig

The objective of this review was to summarise the best available research related to the prevention and management of shoulder pain in the hemiplegic patient. This review considered all studies that included hemiplegic patients post-cerebral vascular accident (CVA). Interventions of interest were any treatments or programs used to manage or prevent shoulder pain secondary to hemiplegia. The primary outcomes of interest were those related to pain. This review considered any randomised controlled trials (RCT) that evaluated the effectiveness of interventions that addressed shoulder pain in hemiplegic patients. In the absence of RCT, other research designs such as non-randomised controlled trials, time series and case series were also considered for inclusion in a narrative summary. The search sought to find both published and unpublished studies. Databases were searched up to February 2002 and included Medline, CINAHL, Current Contents, Cochrane Library, Expanded Academic Index, Electronic Collections Online, Turning Research Into Practice (TRIP), Dissertation Abstracts and Proceedings First. The reference lists of all studies identified were searched for additional studies. All studies were checked for methodological quality by two reviewers and data was extracted using a data extraction tool. Current research evaluating the effectiveness of treatment interventions on hemiplegic shoulder pain is very limited. The studies were very diverse in their nature of research. There has been no replication of studies, with the studies found using different populations, interventions or outcome measures. Not one study could be compared with another. Meta-analysis was unable to be performed not only because of inadequate reporting of results, but more often due to differences between the studies' participants and the range of interventions used. The diversity in interval post-CVA also makes it difficult to make any comparisons between studies. For this reason the review is in

Effect of arm cycling on gait of children with hemiplegic cerebral palsy

African Journals Online (AJOL)

Zeinab A. Hussein

2014-06-18

Jun 18, 2014 ... Pediatrics Department, Faculty of Physical Therapy, Cairo University, Egypt ... Methods: Forty-eight hemiplegic cerebral palsy children participated in this study ... training exercise, while the control group received gait training ...

Early intervention to improve hand function in hemiplegic cerebral palsy

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Anna Purna Basu

2015-01-01

Full Text Available Children with hemiplegic cerebral palsy often have marked hand involvement with excessive thumb adduction and flexion and limited active wrist extension from infancy. Post-lesional aberrant plasticity can lead to progressive abnormalities of the developing motor system. Disturbances of somatosensory and visual function and developmental disregard contribute to difficulties with hand use. Progressive soft tissue and bony changes may occur, leading to contractures which further limit function in a vicious cycle. Early intervention might help to break this cycle: however, the precise nature and appropriateness of the intervention must be carefully considered. Traditional approaches to the hemiplegic upper limb include medications and botulinum toxin injections to manage abnormalities of tone, and surgical interventions. Therapist input, including provision of orthoses, remains a mainstay although many therapies have not been well evaluated. There has been a recent increase in interventions for the hemiplegic upper limb, mostly aimed outside the period of infancy. These include trials of constraint-induced movement therapy and bimanual therapy as well as the use of virtual reality and robot-assisted therapy. In future, non-invasive brain stimulation may be combined with therapy. Interventions under investigation in the infant age group include modified constraint-induced movement therapy and action observation therapy. A further approach which may be suited to the infant with thumb-in-palm deformity, but which requires evaluation, is the use of elastic taping. Enhanced cutaneous feedback through mechanical stimulation to the skin provided by the tape during movement has been postulated to modulate ongoing muscle activity. If effective, this would represent a low-cost, safe, widely applicable early intervention.

The effects of virtual reality-based bilateral arm training on hemiplegic children's upper limb motor skills.

Science.gov (United States)

Do, Ji-Hye; Yoo, Eun-Young; Jung, Min-Ye; Park, Hae Yean

2016-01-01

Hemiplegic cerebral palsy is a neurological symptom appearing on the unilateral arm and leg of the body that causes affected upper/lower limb muscle weakening and dysesthesia and accompanies tetany and difficulties in postural control due to abnormal muscle tone, and difficulties in body coordination. The purpose of this study was to examine the impact of virtual reality-based bilateral arm training on the motor skills of children with hemiplegic cerebral palsy, in terms of their upper limb motor skills on the affected side, as well as their bilateral coordination ability. The research subjects were three children who were diagnosed with hemiplegic cerebral palsy. The research followed an ABA design, which was a single-subject experimental design. The procedure consisted of a total of 20 sessions, including four during the baseline period (A1), 12 during the intervention period (B), and four during the baseline regression period (A2), For the independent variable bilateral arm training based on virtual reality, Nintendo Wii game was played for 30 minutes in each of the 12 sessions. For the dependent variables of upper limb motor skills on the affected side and bilateral coordination ability, a Wolf Motor Function Test (WMFT) was carried out for each session and the Pediatric Motor Activity Log (PMAL) was measured before and after the intervention, as well as after the baseline regression period. To test bilateral coordination ability, shooting baskets in basketball with both hands and moving large light boxes were carried out under operational definitions, with the number of shots and time needed to move boxes measured. The results were presented using visual graphs and bar graphs. The study's results indicated that after virtual reality-based bilateral arm training, improvement occurred in upper limb motor skills on the affected sides, and in bilateral coordination ability, for all of the research subjects. Measurements of the effects of sustained therapy after

Ultrasound and magnetic resonance findings and correlation in hemiplegic patients with shoulder pain.

Science.gov (United States)

Doğun, Asuman; Karabay, İlkay; Hatipoğlu, Cem; Özgirgin, Neşe

2014-01-01

The aim of this study was to evaluate the ultrasonography (US) and MRI findings in hemiplegic patients with shoulder pain and investigate the correlation between them. It is not possible for these patients to fully perform active range of motion (ROM) and stress tests, so imaging methods take center stage in diagnosis and treatment planning. A total of 68 hemiplegic patients with shoulder pain attending the inpatient rehabilitation program were included in the study. MRI and US results from the patient files were recorded. The frequency of each pathology identified by US and MRI was determined. The distribution of MRI and US findings was investigated to see whether there was a statistical difference between the correlation of MRI and US results. The mean (SD) age of the patients was 63.7 (8.3) years and the mean (SD) duration of hemiplegia was 49 (8.9) days. According to the MRI results, glenohumeral and acromioclavicular joint degeneration was found in 77.9% and 79.7% of the patients, respectively; subacromial-subdeltoid bursitis in 80.9%; fluid increase in the joint space in 41.2%; supraspinatus tendinitis in 36.8%; and supraspinatus partial rupture in 33.8%. Shoulder US findings were supraspinatus tendinitis in 54.4%, acromioclavicular joint degeneration in 26.5%, bicipital tendinitis in 20.6%, and subacromial-subdeltoid bursitis in 19.1%. There was a statistically significant difference between MRI and US findings. The results were not compatible with each other (P ≯ .05), and these findings were not consistent with each other since the kappa coefficient was under 0.40 for all these results. Although US is recommended as the first method in determining shoulder pathologies in hemiplegic patients, we suggest that MRI should be used as the first choice in hemiplegic patients with shoulder pain. MRI and US findings were not consistent, and US is dependent on the experience of the operator. MRI should be the first choice in cases where the diagnosis will affect

Motion analysis of wheelchair propulsion movements in hemiplegic patients: effect of a wheelchair cushion on suppressing posterior pelvic tilt

OpenAIRE

Kawada, Kyohei; Matsuda, Tadamitsu; Takanashi, Akira; Miyazima, Shigeki; Yamamoto, Sumiko

2015-01-01

[Purpose] This study sought to ascertain whether, in hemiplegic patients, the effect of a wheelchair cushion to suppress pelvic posterior tilt when initiating wheelchair propulsion would continue in subsequent propulsions. [Subjects] Eighteen hemiplegic patients who were able to propel a wheelchair in a seated position participated in this study. [Methods] An adjustable wheelchair was fitted with a cushion that had an anchoring function, and a thigh pad on the propulsion side was removed. Pro...

Epilepsy in Hemiplegic Cerebral Palsy Due to Perinatal Arterial Ischaemic Stroke

Science.gov (United States)

Wanigasinghe, Jithangi; Reid, Susan M.; Mackay, Mark T.; Reddihough, Dinah S.; Harvey, A. Simon; Freeman, Jeremy L.

2010-01-01

Aim: The aim of this study was to describe the frequency, risk factors, manifestations, and outcome of epilepsy in children with hemiplegic cerebral palsy (CP) due to perinatal arterial ischaemic stroke (AIS). Method: The study group comprised 63 participants (41 males, 22 females) from a population-based CP register whose brain imaging showed…

Effect of Time Constraind Induced Therapy on Function, Coordination and Movements of Upper Limb on Hemiplegic Adults

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Masoud Gharib

2011-10-01

Full Text Available Objectives: Stroke, is one of the major causes of disability in adults. So, the patient may prefer to use the non-involved limb to perfom selfcare & named this phenomen learned non used. Constraint induced therapy is one of the rehabilitative interventions that can be effective in restoration of the function of the involved limb in some hemiparetic post stroke patients. purpose of this study was to investigate effect of time constraind induced therapy on function, coordination and movements of upper limb on hemiplegic adults. Methods: In an interventional design, 15 hemiplegic patients attended in stracture exrcises for 2 hours a day, 5 days a week for 12 weeks in during while for 5 hours a day, 5 days a week for 12 weeks, the sound limb was restricted within an arm sling for movement & dextrity assessment were used Fugl-Meyer & Minnesota Manual Dexterity Test. Results: the results of Fugl-Meyer & Minnesota Manual Dexterity Test were significantly improved in patients, after the intervention (P<0.05. Discussion: Our study shows that using CIT in involved limb encouraged the patients to use their involved limb and improved function by conquering learned non-use of the limb. more research is necessary to define baselines or golden times for rehabilitation of the patients using CIT method.

Grado de discapacidad en pacientes hemipléjicos del "Policlínico Docente Universitario del Cerro" Evaluation of disability in hemiplegic patients from Cerro university teaching polyclinic

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Abel Estévez Perera

2012-12-01

hemiplegic patients who regularly went to the rehabilitation service of Cerro polyclinics from September 2009 to July 2011. The sample consisted of one hundred and twenty four over 15 years-old hemiplegic patients due to cerebrovascular disease, who were evaluated according to the Rosseton's disability scale. Those patients with mixed or sensory aphasia and those who refused to participate were excluded. Results: of the participants, 84 (67.8 % patients were independent for orientation whereas semi-dependence for movement and physical needs prevailed. For personal hygiene, 48 (38.7 % patients were dependent. Ninety two (74.2 % patients did not feel motivated to spend their leisure time in doing any activity, basically because of difficulties in living together with their relatives. Conclusions: the extent of disability of evaluated hemiplegic patients is caused by their partial dependence in terms of movement, and physical needs and by their dependence for self-care. Difficulties in coexistence and family relationships interfere with the motivation of the patients to spend their leisure time.

CT findings of leg muscles in the hemiplegics due to cerebrovascular accidents

International Nuclear Information System (INIS)

Odajima, Natsu; Ishiai, Sumio; Okiyama, Ryouichi; Furukawa, Tetsuo; Tsukagoshi, Hiroshi.

1987-01-01

Muscle wastings in hemiplegics due to cerebrovascular accidents were studied with CT scanning in the mid-portion of the thigh and largest-diameter section of the calf bilaterally. Muscle size and average CT density of muscle were measured. The 80 patients were classified into one of the following three stages of disability, i.e. stage 1, severely disabled (wheel-chair-bound but capable of self care [20 patients]); stage 2, moderately disabled (poorly ambulatory [41 patients]); and stage 3, mildly disabled (well ambulatory [19 patients]). Muscle cross-sectional area and CT density in both legs of non-ambulatory patients were smaller and lower than those of other groups. The atrophic change was marked in the affected side, but it was also noticeable in the non-affected side. Gracilis muscle was relatively well spared in all 3 stages. These CT findings of hemiplegics were similar to those of disuse atropy in patients with knee or hip joint lesions. Atrophy was seen first in the quadriceps in thigh and flexor muscle group in calf. These findings were similar to the systemic myogenic or neurogenic atrophies. Although gracilis and sartorius muscles were spared in these systemic deseases, only gracilis muscle was spared in hemiplegics and in patients with disuse atrophy. The ratios of the size of quadriceps, adductor group and sartorius muscle of thigh in affected side to that of non-affected side were smaller in more severely disabled group. Those of the other muscles showed no differences among each stages. In stage 3, there was significant negative correlation between the ratio of quadriceps muscle and periods from the attack. There was no relationship between the severity of the muscle atrophy and parietal lobe lesion. The atrophy is considered to be the result of disuse from immobilization. (author)

Upper Extremity Functional Evaluation by Fugl-Meyer Assessment Scoring Using Depth-Sensing Camera in Hemiplegic Stroke Patients.

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Won-Seok Kim

Full Text Available Virtual home-based rehabilitation is an emerging area in stroke rehabilitation. Functional assessment tools are essential to monitor recovery and provide current function-based rehabilitation. We developed the Fugl-Meyer Assessment (FMA tool using Kinect (Microsoft, USA and validated it for hemiplegic stroke patients. Forty-one patients with hemiplegic stroke were enrolled. Thirteen of 33 items were selected for upper extremity motor FMA. One occupational therapist assessed the motor FMA while recording upper extremity motion with Kinect. FMA score was calculated using principal component analysis and artificial neural network learning from the saved motion data. The degree of jerky motion was also transformed to jerky scores. Prediction accuracy for each of the 13 items and correlations between real FMA scores and scores using Kinect were analyzed. Prediction accuracies ranged from 65% to 87% in each item and exceeded 70% for 9 items. Correlations were high for the summed score for the 13 items between real FMA scores and scores obtained using Kinect (Pearson's correlation coefficient = 0.873, P<0.0001 and those between total upper extremity scores (66 in full score and scores using Kinect (26 in full score (Pearson's correlation coefficient = 0.799, P<0.0001. Log transformed jerky scores were significantly higher in the hemiplegic side (1.81 ± 0.76 compared to non-hemiplegic side (1.21 ± 0.43 and showed significant negative correlations with Brunnstrom stage (3 to 6; Spearman correlation coefficient = -0.387, P = 0.046. FMA using Kinect is a valid way to assess upper extremity function and can provide additional results for movement quality in stroke patients. This may be useful in the setting of unsupervised home-based rehabilitation.

Can we improve gait skills in chronic hemiplegics? A randomised control trial with gait trainer.

Science.gov (United States)

Dias, D; Laíns, J; Pereira, A; Nunes, R; Caldas, J; Amaral, C; Pires, S; Costa, A; Alves, P; Moreira, M; Garrido, N; Loureiro, L

2007-12-01

Partial body weight support (PBWS) is an accepted treatment for hemiplegic patients. The aim of this study is to compare the efficiency of gait trainer with conventional treatment on the gait management after stroke. Forty chronic post-stroke hemiplegics were part of a prospective research. Inclusion criteria were: first ever stroke in a chronic stage with stabilised motor deficits; age >18 and gait trainer, for the same period of time and frequency. Assessment tools: Motricity Index (MI); Toulouse Motor Scale (TMS); modified Ashworth Spasticity Scale (mASS); Berg Balance Scale (BBS); Rivermead Mobility Index (RMI); Fugl-Meyer Stroke Scale (F-MSS); Functional Ambulation Category (FAC); Barthel Index (BI); 10 meters, time up and go (TUG), 6 minutes, and step tests. EG and CG did the assessments before treatment (T(0)), right after treatment (T(1)), and on follow-up, 3 months later (T(2)). CG and EG were homogenous in all the variables at T(0). CG and EG showed improvement in almost all the assessment scales after treatment, although only some with relevant differences. EG showed statistically relevant improvement on T(1) and on T(2) in several of the assessment tools, whereas CG only showed statistically significant improvement after T(1) and only in some of the assessment tools. Both groups of chronic hemiplegic patients improved after either PBWS with gait trainer or Bobath treatment. Only subjects undergoing PBWS with gait trainer maintained functional gain after 3 months.

An evaluation of the hemiplegic subject based on the Bobath approach. Part II: The evaluation protocol.

Science.gov (United States)

Corriveau, H; Guarna, F; Dutil, E; Riley, E; Arsenault, A B; Drouin, G

1988-01-01

A protocol of evaluation of the hemiplegic patient based on the Bobath approach to treatment is presented. Six parameters are evaluated: sensorium, muscle tone, reflex activity, active movement, postural reactions and pain. The first and last of these are included because of their possible effects on the motor recovery process of the hemiplegic patient. The other four are directly borrowed from the Bobath modality of treatment. For each of these parameters, the procedures are given for its evaluation along with its respective rating scales. These scales are of an ordinal nature ranging from 0 to 3. It is suggested that this new evaluation protocol is fully compatible with the therapeutic modality developed by Bobath and as well is adequate to quantify patient progress in the principle aspects treated by this well used rehabilitation approach.

Acute Intravenous Calcium Antagonist for Suspected Hemiplegic Migraine – A Case Story

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Charlotte Lützhøft Rath

2017-05-01

Full Text Available Stroke mimics, like attacks of hemiplegic migraine, are challenging in acute stroke evaluation. We present a 28-year-old woman with a suspected hemiplegic migraine attack with left-sided hemiparalysis. Brain CT with perfusion imaging 1 h 54 min after symptom onset revealed hypoperfusion in the right hemisphere. The patient was treated with intravenous recombinant tissue plasminogen activator (rtPA with no effect. After a subsequent intravenous verapamil infusion, the patient gained full motor function within 10 min. Brain magnetic resonance imaging (MRI performed 5 h 46 min after symptom onset revealed diffusion restriction in the same area as the hypoperfusion on CT. There were no notable changes on T2 images. The patient stayed clinically in remission, except for reduced sensation for all modalities on the extremities on the left side. Although brain CT 24 h after symptom onset revealed an edema in the same area, an MRI performed 17 days later showed no new infarctions. Young patients with a history of migraine with aura admitted with symptoms of acute ischemic stroke are at risk of insufficient treatment. Calcium antagonists might be considered if there is no effect of first-line treatment with rtPA.

Effects of short term water immersion on peripheral reflex excitability in hemiplegic and healthy individuals: A preliminary study.

Science.gov (United States)

Cronin, N J; Valtonen, A M; Waller, B; Pöyhönen, T; Avela, J

2016-03-01

Reflex excitability is increased in hemiplegic patients compared to healthy controls. One challenge of stroke rehabilitation is to decrease the effects of hyperreflexia, which may be possible with water immersion. Methods/Aims: The present study examined the effects of acute water immersion on electrically-evoked Hmax:Mmax ratios (a measure of reflex excitability) in 7 hyperreflexive hemiplegic patients and 7 age-matched healthy people. Hmax:Mmax ratios were measured from soleus on dry land (L1), immediately after (W1) and 5 minutes after immersion (W5), and again after five minutes on land (L5). Water immersion led to an acute increase in Hmax:Mmax ratio in both groups. However, after returning to dry land, there was a non-significant decrease in the Hmax:Mmax ratio of 8% in the hemiplegic group and 10% in healthy controls compared to pre-immersion values. A short period of water immersion can decrease peripheral reflex excitability after returning to dry land in both healthy controls and post-stroke patients, although longer immersion periods may be required for sustainable effects. Water immersion may offer promise as a low-risk, non-invasive and non-pharmaceutical method of decreasing hyperreflexivity, and could thus support aquatic rehabilitation following stroke.

The effects of high custom made shoes on gait characteristics and patient satisfaction in hemiplegic gait

NARCIS (Netherlands)

Eckhardt, Martine M; Mulder, Mascha C Borgerhoff; Horemans, Herwin L; van der Woude, Lucas; Ribbers, Gerard M

2011-01-01

OBJECTIVE: To determine the effects of a temporary high custom made orthopaedic shoe on functional mobility, walking speed, and gait characteristics in hemiplegic stroke patients. In addition, interference of attentional demands and patient satisfaction were studied. DESIGN: Clinical experimental

The effects of high custom made shoes on gait characteristics and patient satisfaction in hemiplegic gait

NARCIS (Netherlands)

Eckhardt, Martine M.; Mulder, Mascha C. Borgerhoff; Horemans, Herwin L.; van der Woude, Luc H.; Ribbers, Gerard M.

2011-01-01

Objective: To determine the effects of a temporary high custom made orthopaedic shoe on functional mobility, walking speed, and gait characteristics in hemiplegic stroke patients. In addition, interference of attentional demands and patient satisfaction were studied. Design: Clinical experimental

Gait Patterns in Hemiplegic Children with Cerebral Palsy: Comparison of Right and Left Hemiplegia

Science.gov (United States)

Galli, Manuela; Cimolin, Veronica; Rigoldi, Chiara; Tenore, Nunzio; Albertini, Giorgio

2010-01-01

The aims of this study are to compare quantitatively the gait strategy of the right and left hemiplegic children with Cerebral Palsy (CP) using gait analysis. The gait strategy of 28 right hemiparetic CP (RHG) and 23 left hemiparetic CP (LHG) was compared using gait analysis (spatio-temporal and kinematic parameters) and considering the hemiplegic…

Activation of less affected corticospinal tract and poor motor outcome in hemiplegic pediatric patients: a diffusion tensor tractography imaging study

Directory of Open Access Journals (Sweden)

Jin Hyun Kim

2015-01-01

Full Text Available The less affected hemisphere is important in motor recovery in mature brains. However, in terms of motor outcome in immature brains, no study has been reported on the less affected corticospinal tract in hemiplegic pediatric patients. Therefore, we examined the relationship between the condition of the less affected corticospinal tract and motor function in hemiplegic pediatric patients. Forty patients with hemiplegia due to perinatal or prenatal injury (13.7 ± 3.0 months and 40 age-matched typically developing controls were recruited. These patients were divided into two age-matched groups, the high functioning group (20 patients and the low functioning group (20 patients using functional level of hemiplegia scale. Diffusion tensor tractography images showed that compared with the control group, the patient group of the less affected corticospinal tract showed significantly increased fiber number and significantly decreased fractional anisotropy value. Significantly increased fiber number and significantly decreased fractional anisotropy value in the low functioning group were observed than in the high functioning group. These findings suggest that activation of the less affected hemisphere presenting as increased fiber number and decreased fractional anisotropy value is related to poor motor function in pediatric hemiplegic patients.

A preliminary economic evaluation of percutaneous neuromuscular electrical stimulation in the treatment of hemiplegic shoulder pain

NARCIS (Netherlands)

van Til, Janine Astrid; Renzenbrink, Gerbert J.; Groothuis-Oudshoorn, Catharina Gerarda Maria; IJzerman, Maarten Joost

Objective. The objective of this study was to compare the cost-effectiveness of various treatment modalities for hemiplegic shoulder pain. Design. A stage II economic evaluation. Main outcome measures. Incremental cost effectiveness ratio of P-NMES, compared to slings and anti-inflammatory

Mini-mental state exam for children (MMC) in children with hemiplegic cerebral palsy.

Science.gov (United States)

Moura, Ricardo; Andrade, Peterson Marco Oliveira; Fontes, Patrícia Lemos Bueno; Ferreira, Fernanda Oliveira; Salvador, Larissa de Souza; Carvalho, Maria Raquel Santos; Haase, Vitor Geraldi

2017-01-01

Cognitive impairment is frequent in cerebral palsy (CP) and there is a lack of multiprofessional screening instruments. The aim of this study was to investigate the utility of the Mini-Mental State Examination for Children (MMC), an adapted version of the Mini-Mental State Examination, in screening for cognitive impairments in children with CP. We assessed 397 Brazilian children, 310 with typical development and 87 with CP (hemiplegic and quadriplegic forms), aged 5-16 years. Association between the MMC and general intelligence was assessed by the Colored Progressive Matrices instrument. Psychometric indexes for the MMC were adequate. ROC analyses revealed effective diagnostic accuracy in all ages assessed. Cut-off values are reported. Major difficulties on the MMC were observed in children with CP, particularly individuals with the quadriplegic form. Moreover, the MMC showed moderate correlation with the intelligence test, and was reliable in discriminating, among clinical cases, those with poorer cognitive abilities. The MMC could be useful as a multiprofessional screening instrument for cognitive impairment in children with hemiplegic CP. Results of the MMC in quadriplegic CP children should be interpreted with caution. Diagnosis should be confirmed by further psychological testing.

Blood flow in the limbs of hemiplegic patients by 99mTc-HSA accumulation curve and digital plethysmography

International Nuclear Information System (INIS)

Kuriyama, Setsuro

1985-01-01

Using 99m Tc-Human-Serum-Albumin (HSA) accumulation curve we have studied the blood flow in the lower extremities of the hemiplegic patients. After injection of 5 - 10 mCi of 99m Tc-HSA into v. mediana cubiti by the Oldendolf method, we recorded the RI count from both knees. We have examined 68 hemiplegic patients (male: 26, female: 42, right: 31, left: 37, average age: 61.7 years, average Brunnstrom stage of the lower extremity: 3.73, average duration post-stroke: 20.2 months). We counted the accumulation of the isotope in both knees 1 and 30 minutes after injection, and calculated the percentage (partic side/right and left sides), and named them as ''1-minute value'' and ''30-minute value''. During the 15 months period after an attack, the paretic leg had more blood flow than the non-paretic leg. After 15 months after attack, on the contrary, the paretic leg had less blood flow than the non-paretic leg. This tendency is clear in the left-sided hemiplegic patients. There is no relation between the blood flow and age, and the Brunnstrom stage, and the ability to walk. Using digital plethysmography, we have studied the blood flow in the finger and toe, too. We have examined 57 hemiplegic patients. We have averaged the five hights of the wave (mV/V), and calculated the percentage involved (paretic side/right and left) and labled it ''the paretic blood flow value (of the finger and of the toe)''. During the 12 month period after an attack, the paretic side had more blood flow than the non-paratic side. After 15 month after an attack, on the contrary, the paretic side had less blood flow than the non-paretic side. This tendency is clear in the finger than the toe. There is no correlation between the blood flow and the age, and the Brunnstrom stage, and the ability to walk. (author)

In-home virtual reality videogame telerehabilitation in adolescents with hemiplegic cerebral palsy.

Science.gov (United States)

Golomb, Meredith R; McDonald, Brenna C; Warden, Stuart J; Yonkman, Janell; Saykin, Andrew J; Shirley, Bridget; Huber, Meghan; Rabin, Bryan; Abdelbaky, Moustafa; Nwosu, Michelle E; Barkat-Masih, Monica; Burdea, Grigore C

2010-01-01

Golomb MR, McDonald BC, Warden SJ, Yonkman J, Saykin AJ, Shirley B, Huber M, Rabin B, AbdelBaky M, Nwosu ME, Barkat-Masih M, Burdea GC. In-home virtual reality videogame telerehabilitation in adolescents with hemiplegic cerebral palsy. To investigate whether in-home remotely monitored virtual reality videogame-based telerehabilitation in adolescents with hemiplegic cerebral palsy can improve hand function and forearm bone health, and demonstrate alterations in motor circuitry activation. A 3-month proof-of-concept pilot study. Virtual reality videogame-based rehabilitation systems were installed in the homes of 3 participants and networked via secure Internet connections to the collaborating engineering school and children's hospital. Adolescents (N=3) with severe hemiplegic cerebral palsy. Participants were asked to exercise the plegic hand 30 minutes a day, 5 days a week using a sensor glove fitted to the plegic hand and attached to a remotely monitored videogame console installed in their home. Games were custom developed, focused on finger movement, and included a screen avatar of the hand. Standardized occupational therapy assessments, remote assessment of finger range of motion (ROM) based on sensor glove readings, assessment of plegic forearm bone health with dual-energy x-ray absorptiometry (DXA) and peripheral quantitative computed tomography (pQCT), and functional magnetic resonance imaging (fMRI) of hand grip task. All 3 adolescents showed improved function of the plegic hand on occupational therapy testing, including increased ability to lift objects, and improved finger ROM based on remote measurements. The 2 adolescents who were most compliant showed improvements in radial bone mineral content and area in the plegic arm. For all 3 adolescents, fMRI during grip task contrasting the plegic and nonplegic hand showed expanded spatial extent of activation at posttreatment relative to baseline in brain motor circuitry (eg, primary motor cortex and

Development of Device to Evoke Stretch Reflexes by Use of Electromagnetic Force for the Rehabilitation of the Hemiplegic Upper Limb after Stroke

Science.gov (United States)

Hayashi, Ryota; Ishimine, Tomoyasu; Kawahira, Kazumi; Yu, Yong; Tsujio, Showzow

In this research, we focus on the method of rehabilitation with stretch reflexes for the hemiplegic upper limb in stroke patients. We propose a new device which utilizes electromagnetic force to evoke stretch reflexes. The device can exert an assisting force safely, because the electromagnetic force is non contact force. In this paper, we develop a support system applying the proposed device for the functional recovery training of the hemiplegic upper limb. The results obtained from several clinical tests with and without our support system are compared. Then we discuss the validity of our support system.

Development of an Active Ankle Foot Orthosis to Prevent Foot Drop and Toe Drag in Hemiplegic Patients: A Preliminary Study

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Jungyoon Kim

2011-01-01

Full Text Available We developed an active ankle-foot orthosis (AAFO that controls dorsiflexion/plantarflexion of the ankle joint to prevent foot drop and toe drag during hemiplegic walking. To prevent foot slap after initial contact, the ankle joint must remain active to minimize forefoot collision against the ground. During late stance, the ankle joint must also remain active to provide toe clearance and to aid with push-off. We implemented a series elastic actuator in our AAFO to induce ankle dorsiflexion/plantarflexion. The activator was controlled by signals from force sensing register (FSR sensors that detected gait events. Three dimensional gait analyses were performed for three hemiplegic patients under three different gait conditions: gait without AFO (NAFO, gait with a conventional hinged AFO that did not control the ankle joint (HAFO, and gait with the newly-developed AFO (AAFO. Our results demonstrate that our newly-developed AAFO not only prevents foot drop by inducing plantarflexion during loading response, but also prevents toe drag by facilitating plantarflexion during pre-swing and dorsiflexion during swing phase, leading to improvement in most temporal-spatial parameters. However, only three hemiplegic patients were included in this gait analysis. Studies including more subjects will be required to evaluate the functionality of our newly developed AAFO.

Disease: H01808 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available that CACNA1A associate with HHE and familial hemiplegic migraine, and suggested that similar pathogenic mech... ... Familial or sporadic hemiplegic migraine. ICD-10: G40.5 PMID:22341151 ... AUTHORS ... Auvin S, Bellavoine V, M...sions. Although hemiplegia is usually permanent, it may disappear in about 20% of cases. Some patients with familial hemiplegic migra...ine and manifesting the S218L mutation in CACNA1A were reported to experience sever

Fingertip force planning during grasp is disrupted by impaired sensorimotor integration in children with hemiplegic cerebral palsy

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Gordon, A.M.; Charles, J.; Steenbergen, B.

2006-01-01

In the present study we examine the ability of children with hemiplegic cerebral palsy (CP) to use anticipatory control of fingertip forces during grasping, and whether anticipatory control is facilitated by lifts with the contralateral hand. Eight children with CP (age 4-13) were asked to perform

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Science.gov (United States)

Heinzen, Erin L.; Swoboda, Kathryn J.; Hitomi, Yuki; Gurrieri, Fiorella; Nicole, Sophie; de Vries, Boukje; Tiziano, F. Danilo; Fontaine, Bertrand; Walley, Nicole M.; Heavin, Sinéad; Panagiotakaki, Eleni; Fiori, Stefania; Abiusi, Emanuela; Di Pietro, Lorena; Sweney, Matthew T.; Newcomb, Tara M.; Viollet, Louis; Huff, Chad; Jorde, Lynn B.; Reyna, Sandra P.; Murphy, Kelley J.; Shianna, Kevin V.; Gumbs, Curtis E.; Little, Latasha; Silver, Kenneth; Ptác̆ek, Louis J.; Haan, Joost; Ferrari, Michel D.; Bye, Ann M.; Herkes, Geoffrey K.; Whitelaw, Charlotte M.; Webb, David; Lynch, Bryan J.; Uldall, Peter; King, Mary D.; Scheffer, Ingrid E.; Neri, Giovanni; Arzimanoglou, Alexis; van den Maagdenberg, Arn M.J.M.; Sisodiya, Sanjay M.; Mikati, Mohamad A.; Goldstein, David B.; Nicole, Sophie; Gurrieri, Fiorella; Neri, Giovanni; de Vries, Boukje; Koelewijn, Stephany; Kamphorst, Jessica; Geilenkirchen, Marije; Pelzer, Nadine; Laan, Laura; Haan, Joost; Ferrari, Michel; van den Maagdenberg, Arn; Zucca, Claudio; Bassi, Maria Teresa; Franchini, Filippo; Vavassori, Rosaria; Giannotta, Melania; Gobbi, Giuseppe; Granata, Tiziana; Nardocci, Nardo; De Grandis, Elisa; Veneselli, Edvige; Stagnaro, Michela; Gurrieri, Fiorella; Neri, Giovanni; Vigevano, Federico; Panagiotakaki, Eleni; Oechsler, Claudia; Arzimanoglou, Alexis; Nicole, Sophie; Giannotta, Melania; Gobbi, Giuseppe; Ninan, Miriam; Neville, Brian; Ebinger, Friedrich; Fons, Carmen; Campistol, Jaume; Kemlink, David; Nevsimalova, Sona; Laan, Laura; Peeters-Scholte, Cacha; van den Maagdenberg, Arn; Casaer, Paul; Casari, Giorgio; Sange, Guenter; Spiel, Georg; Boneschi, Filippo Martinelli; Zucca, Claudio; Bassi, Maria Teresa; Schyns, Tsveta; Crawley, Francis; Poncelin, Dominique; Vavassori, Rosaria

2012-01-01

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurologic manifestations. AHC is usually a sporadic disorder with unknown etiology. Using exome sequencing of seven patients with AHC, and their unaffected parents, we identified de novo nonsynonymous mutations in ATP1A3 in all seven AHC patients. Subsequent sequence analysis of ATP1A3 in 98 additional patients revealed that 78% of AHC cases have a likely causal ATP1A3 mutation, including one inherited mutation in a familial case of AHC. Remarkably, six ATP1A3 mutations explain the majority of patients, including one observed in 36 patients. Unlike ATP1A3 mutations that cause rapid-onset-dystonia-parkinsonism, AHC-causing mutations revealed consistent reductions in ATPase activity without effects on protein expression. This work identifies de novo ATP1A3 mutations as the primary cause of AHC, and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in this gene. PMID:22842232

CT findings of leg muscles in the hemiplegics due to cerebrovascular accidents. Correlation to disuse atrophy

Energy Technology Data Exchange (ETDEWEB)

Odajima, Natsu; Ishiai, Sumio; Okiyama, Ryouichi; Furukawa, Tetsuo; Tsukagoshi, Hiroshi

1987-09-01

Muscle wastings in hemiplegics due to cerebrovascular accidents were studied with CT scanning in the mid-portion of the thigh and largest-diameter section of the calf bilaterally. Muscle size and average CT density of muscle were measured. The 80 patients were classified into one of the following three stages of disability, i.e. stage 1, severely disabled (wheel-chair-bound but capable of self care (20 patients)); stage 2, moderately disabled (poorly ambulatory (41 patients)); and stage 3, mildly disabled (well ambulatory (19 patients)). Muscle cross-sectional area and CT density in both legs of non-ambulatory patients were smaller and lower than those of other groups. The atrophic change was marked in the affected side, but it was also noticeable in the non-affected side. Gracilis muscle was relatively well spared in all 3 stages. These CT findings of hemiplegics were similar to those of disuse atropy in patients with knee or hip joint lesions. Atrophy was seen first in the quadriceps in thigh and flexor muscle group in calf. These findings were similar to the systemic myogenic or neurogenic atrophies. Although gracilis and sartorius muscles were spared in these systemic deseases, only gracilis muscle was spared in hemiplegics and in patients with disuse atrophy. The ratios of the size of quadriceps, adductor group and sartorius muscle of thigh in affected side to that of non-affected side were smaller in more severely disabled group. Those of the other muscles showed no differences among each stages. In stage 3, there was significant negative correlation between the ratio of quadriceps muscle and periods from the attack. There was no relationship between the severity of the muscle atrophy and parietal lobe lesion. The atrophy is considered to be the result of disuse from immobilization.

Motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment: a diffusion tensor imaging study

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Jin Hyun Kim

2015-01-01

Full Text Available Previous diffusion tensor imaging (DTI studies regarding pediatric patients with motor dysfunction have confirmed the correlation between DTI parameters of the injured corticospinal tract and the severity of motor dysfunction. There is also evidence that DTI parameters can help predict the prognosis of motor function of patients with cerebral palsy. But few studies are reported on the DTI parameters that can reflect the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment. In the present study, 36 pediatric patients with hemiplegic cerebral palsy were included. Before and after rehabilitation treatment, DTI was used to measure the fiber number (FN, fractional anisotropy (FA and apparent diffusion coefficient (ADC of bilateral corticospinal tracts. Functional Level of Hemiplegia scale (FxL was used to assess the therapeutic effect of rehabilitative therapy on clinical hemiplegia. Correlation analysis was performed to assess the statistical interrelationship between the change amount of DTI parameters and FxL. DTI findings obtained at the initial and follow-up evaluations demonstrated that more affected corticospinal tract yielded significantly decreased FN and FA values and significantly increased ADC value compared to the less affected corticospinal tract. Correlation analysis results showed that the change amount of FxL was positively correlated to FN and FA values, and the correlation to FN was stronger than the correlation to FA. The results suggest that FN and FA values can be used to evaluate the motor function outcomes of pediatric patients with hemiplegic cerebral palsy after rehabilitation treatment and FN is of more significance for evaluation.

Contralateral peripheral neurotization for a hemiplegic hindlimb after central neurological injury.

Science.gov (United States)

Zheng, Mou-Xiong; Hua, Xu-Yun; Jiang, Su; Qiu, Yan-Qun; Shen, Yun-Dong; Xu, Wen-Dong

2018-01-01

OBJECTIVE Contralateral peripheral neurotization surgery has been successfully applied to rescue motor function of the hemiplegic upper extremity in patients with central neurological injury (CNI). It may contribute to strengthened neural pathways between the contralesional cortex and paretic limbs. However, the effect of this surgery in the lower extremities remains unknown. In the present study the authors explored the effectiveness and safety of contralateral peripheral neurotization in treating a hemiplegic lower extremity following CNI in adult rats. METHODS Controlled cortical impact (CCI) was performed on the hindlimb motor cortex of 36 adult Sprague-Dawley rats to create severe unilateral traumatic brain injury models. These CCI rats were randomly divided into 3 groups. At 1 month post-CCI, the experimental group (Group 1, 12 rats) underwent contralateral L-6 to L-6 transfer, 1 control group (Group 2, 12 rats) underwent bilateral L-6 nerve transection, and another control group (Group 3, 12 rats) underwent an L-6 laminectomy without injuring the L-6 nerves. Bilateral L-6 nerve transection rats without CCI (Group 4, 12 rats) and naïve rats (Group 5, 12 rats) were used as 2 additional control groups. Beam and ladder rung walking tests and CatWalk gait analysis were performed in each rat at baseline and at 0.5, 1, 2, 4, 6, 8, and 10 months to detect the skilled walking functions and gait parameters of both hindlimbs. Histological and electromyography studies were used at the final followup to verify establishment of the traumatic brain injury model and regeneration of the L6-L6 neural pathway. RESULTS In behavioral tests, comparable motor injury in the paretic hindlimbs was observed after CCI in Groups 1-3. Group 1 started to show significantly lower slip and error rates in the beam and ladder rung walking tests than Groups 2 and 3 at 6 months post-CCI (p walking impairment in the intact hindlimbs in Groups 1 and 2 (compared with Group 3) and in the bilateral

Recurrent LDL-receptor mutation causes familial ...

African Journals Online (AJOL)

1995-05-05

May 5, 1995 ... 3. eaudet . New. Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in ... amplification refractory mutation system (ARMS)" and single- strand conformation .... Location. Afrikaner. Mixed race. ApaLl.

Constraint-induced movement therapy improves upper limb activity and participation in hemiplegic cerebral palsy: a systematic review

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Hsiu-Ching Chiu

2016-07-01

Full Text Available Questions: Does constraint-induced movement therapy improve activity and participation in children with hemiplegic cerebral palsy? Does it improve activity and participation more than the same dose of upper limb therapy without restraint? Is the effect of constraint-induced movement therapy related to the duration of intervention or the age of the children? Design: Systematic review of randomised trials with meta-analysis. Participants: Children with hemiplegic cerebral palsy with any level of motor disability. Intervention: The experimental group received constraint-induced movement therapy (defined as restraint of the less affected upper limb during supervised activity practice of the more affected upper limb. The control group received no intervention, sham intervention, or the same dose of upper limb therapy. Outcome measures: Measures of upper limb activity and participation were used in the analysis. Results: Constraint-induced movement therapy was more effective than no/sham intervention in terms of upper limb activity (SMD 0.63, 95% CI 0.20 to 1.06 and participation (SMD 1.21, 95% CI 0.41 to 2.02. However, constraint-induced movement therapy was no better than the same dose of upper limb therapy without restraint either in terms of upper limb activity (SMD 0.05, 95% CI –0.21 to 0.32 or participation (SMD –0.02, 95% CI –0.34 to 0.31. The effect of constraint-induced movement therapy was not related to the duration of intervention or the age of the children. Conclusions: This review suggests that constraint-induced movement therapy is more effective than no intervention, but no more effective than the same dose of upper limb practice without restraint. Registration: PROSPERO CRD42015024665. [Chiu H-C, Ada L (2016 Constraint-induced movement therapy improves upper limb activity and participation in hemiplegic cerebral palsy: a systematic review. Journal of Physiotherapy 62: 130–137

Feasibility and efficacy of a robotic device for hand rehabilitation in hemiplegic stroke patients: a randomized pilot controlled study.

Science.gov (United States)

Vanoglio, Fabio; Bernocchi, Palmira; Mulè, Chiara; Garofali, Francesca; Mora, Chiara; Taveggia, Giovanni; Scalvini, Simonetta; Luisa, Alberto

2017-03-01

The purpose of the study was to evaluate the feasibility and efficacy of robot-assisted hand rehabilitation in improving arm function abilities in sub-acute hemiplegic patients. Randomized controlled pilot study. Inpatient rehabilitation centers. Thirty hemiplegic stroke patients (Ashworth spasticity index hand training with Gloreha, a hand rehabilitation glove that provides computer-controlled, repetitive, passive mobilization of the fingers, with multisensory feedback. Patients in the CG received the same amount of time in terms of conventional hand rehabilitation. Hand motor function (Motricity Index, MI), fine manual dexterity (Nine Hole Peg Test, NHPT) and strength (Grip and Pinch test) were measured at baseline and after rehabilitation, and the differences, (Δ) mean(standard deviation), compared between groups. Results Twenty-seven patients concluded the program: 14 in the TG and 13 in the CG. None of the patients refused the device and only one adverse event of rheumatoid arthritis reactivation was reported. Baseline data did not differ significantly between the two groups. In TG, ΔMI 23(16.4), ΔNHPT 0.16(0.16), ΔGRIP 0.27(0.23) and ΔPINCH 0.07(0.07) were significantly greater than in CG, ΔMI 5.2(9.2), ΔNHPT 0.02(0.07), ΔGRIP 0.03(0.06) and ΔPINCH 0.02(0.03)] ( p=0.002, p=0.009, p=0.003 and p=0.038, respectively). Gloreha Professional is feasible and effective in recovering fine manual dexterity and strength and reducing arm disability in sub-acute hemiplegic patients.

The effects of high custom made shoes on gait characteristics and patient satisfaction in hemiplegic gait.

Science.gov (United States)

Eckhardt, Martine M; Mulder, Mascha C Borgerhoff; Horemans, Herwin L; van der Woude, Luc H; Ribbers, Gerard M

2011-10-01

To determine the effects of a temporary high custom made orthopaedic shoe on functional mobility, walking speed, and gait characteristics in hemiplegic stroke patients. In addition, interference of attentional demands and patient satisfaction were studied. Clinical experimental study. University Medical Centre. Nineteen stroke patients (12 males; mean age 55 years (standard deviation (SD) 10 years); mean time post onset 3.6 months (SD 1.4 months)) with a spastic paresis of the lower extremity. Functional mobility was assessed with the timed up and go test, walking speed and gait characteristics were measured with clinical gait analysis and performed with and without a verbal dual task. Patient satisfaction was determined with a questionnaire. Walking with the high orthopaedic shoe resulted in improved functional mobility (22%; pshoes. The dual task interfered with functional mobility during walking. The interference was equally big for normal shoes as for the orthopaedic shoe. Patients evaluated walking with the high orthopaedic shoe as an improvement (psafety, walking distance and walking speed. In the early recovery phase after stroke, when regaining walking ability, a temporary high orthopaedic shoe can improve hemiplegic gait, even with dual task interference. Copyright © 2011 Elsevier B.V. All rights reserved.

The Effect of Mental Practice on Coordination of Upper Limb Movements in Hemiplegic Patients

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Zahra Isargar

2000-10-01

Full Text Available Objective: Mental Practice (MP can be defined as the symbolic, covert, mental rehearsal of a task in the absence, overt physical rehearsal. Elements such as similar time between actual execution and mental performance of a task, the increase of regional cerebral blood flow, vegetative activation, and enhancement in muscle electromyographic (EMG activity during mental practice suggests that mental practice imitates physical performance of a task. Since physical practice (PP can, to some extent, improve movement coordination in stroke patients, it is assumed that the application of MP would be beneficial to enhance movement coordination in such patients. The purpose of this study was to investigate the effect of MP on coordination of upper limb movements in hemiplegic patients. Materials & Methods: Fifteen hemiplegic patients (age range 20-70 yrs were participated in this study. All patients were selected of the following criteria: absence of aphasic, apraxia and cognitive problem. The patients were randomly assigned to three groups, MP, PP, and PP+MP. Results: l. PP and MP Significantly improved movement coordination. 2. PP did not give different results when compared to MP. 3. PP Combined with MP Produced Significantly higher scores than each one alone. Conclusion: In spite of the small size in this study, the efficacy of MP shown here. Therefore MP Similar to PP should he used in physiotherapy.

Development of an assist controller with robot suit HAL for hemiplegic patients using motion data on the unaffected side.

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Kawamoto, Hiroaki; Kandone, Hideki; Sakurai, Takeru; Ariyasu, Ryohei; Ueno, Yukiko; Eguchi, Kiyoshi; Sankai, Yoshiyuki

2014-01-01

Among several characteristics seen in gait of hemiplegic patients after stroke, symmetry is known to be an indicator of the degree of impairment of walking ability. This paper proposes a control method for a wearable type lower limb motion assist robot to realize spontaneous symmetric gait for these individuals. This control method stores the motion of the unaffected limb during swing and then provides motion support on the affected limb during the subsequent swing using the stored pattern to realize symmetric gait based on spontaneous limb swing. This method is implemented on the robot suit HAL (Hybrid Assistive Limbs). Clinical tests were conducted in order to assess the feasibility of the control method. Our case study involved participation of one chronic stroke patient who was not able to flex his right knee. As a result, the walking support for hemiplegic leg provided by the HAL improved the subject's gait symmetry. The feasibility study showed promising basis for the future clinical study.

Sit-to-Stand Movement in Children with Hemiplegic Cerebral Palsy: Relationship with Knee Extensor Torque and Social Participation

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dos Santos, Adriana Neves; Pavao, Silvia Leticia; Santiago, Paulo Roberto Pereira; Salvini, Tania de Fatima; Rocha, Nelci Adriana Cicuto Ferreira

2013-01-01

This study aimed to investigate the relationship between sit-to-stand (STS) movement, knee extensor torque and social participation in children with cerebral palsy (CP). Seven spastic hemiplegic CP patients (8.0 plus or minus 2.2 years), classified by the Gross Motor Function Classification System as I and II, and 18 typical children (8.4 plus or…

Reduction of common motoneuronal drive on the affected side during walking in hemiplegic stroke patients

DEFF Research Database (Denmark)

Nielsen, Jens Bo; Brittain, John-Stuart; Halliday, David M.

2008-01-01

walking in eight subjects with unilateral stroke. RESULTS: On the unaffected side, short-term synchronization was evident from the presence of a narrow central peak in cumulant densities and from the presence of significant coherence between these signals in the 10-25 Hz band. Such indicators of short...... on the affected side in hemiplegic patients during walking. SIGNIFICANCE: This is of importance for understanding the mechanisms responsible for reduced gait ability and development of new strategies for gait restoration....

[Efficacy on hemiplegic spasticity treated with plum blossom needle tapping therapy at the key points and Bobath therapy: a randomized controlled trial].

Science.gov (United States)

Wang, Fei; Zhang, Lijuan; Wang, Jianhua; Shi, Yan; Zheng, Liya

2015-08-01

To evaluate the efficacy on hemiplegic spasticity after cerebral infarction treated with plum blossom needle tapping therapy at the key points and Bobath therapy. Eighty patients were collected, in compliance with the inclusive criteria of hemiplegic spasticity after cerebral infarction, and randomized into an observation group and a control group, 40 cases in each one. In the control group, Bobath manipulation therapy was adopted to relieve spasticity and the treatment of 8 weeks was required. In the observation group, on the basis of the treatment as the control group, the tapping therapy with plum blossom needle was applied to the key points, named Jianyu (LI 15), Jianliao (LI 14), Jianzhen (SI 9), Hegu (LI 4), Chengfu (BL 36), Zusanli (ST 36), Xiyangguan (GB 33), etc. The treatment was given for 15 min each time, once a day. Before treatment, after 4 and 8 weeks of treatment, the Fugl-Meyer assessment (FMA) and Barthel index (BI) were adopted to evaluate the motor function of the extremity and the activity of daily life in the patients of the two groups separately. The modified Ashworth scale was used to evaluate the effect of anti-spasticity. In 4 and 8 weeks of treatment, FMA: scores and BI scores were all significantly increased as compared with those before treatment in the two groups: (both PBobath therapy effectively relieves hemiplegic spasticity in the patients of cerebral infarction and improves the motor function of extremity and the activity of daily life.

The semiquantitative three-phase bone scintigraphy on hemiplegic patients with earlier complex regional pain syndrome

International Nuclear Information System (INIS)

Li Fang; Liu Xingdang; Lu Zhihui; Liu Congjin

2010-01-01

Objective: To investigate the difference between the early phases and delay phase of three-phase bone scintigraphy on hemiplegic patients with earlier complex regional pain syndrome (CRPS). Methods: Twenty-nine stroke patients with hemiplegia complicating CRPS received three-phase bone scintigraphy after intravenous injection of 99 Tc m -methylene diphosphonate (MDP). The region of interest (ROI) technique was used to obtain the radioactive counts of involved joints and contralateral sites on wrists, metacarpophalangeal, proximal interphalangeal and distal interphalangeal joints. The total counts of these four sites in each patient were then obtained and the total uptake ratios of involved joints/contralateral joints for each phase were calculated to compare the difference among the three phases. Wilcoxon test and ANOVA were used in data analyses. Results: The involved joints of hemiplegic side displayed higher tracer uptake. There were significant differences of the radioactive counts between involved joints and uninvolved ones in the perfusion, pool and delay phase (Wilcoxon test, Z: -4.73 to -2.10, P<0.05). There was no significant difference of total uptake ratios of involved joints/contralateral joints among the three phases (ANOVA, F = 0. 807, P < 0.05). Conclusions: Due to higher bone seeking agent accumulation on three-phase bone scintigraphy, both early phases and delay phase imaging showed similar value in stroke patients with hemiplegia complicating earlier CRPS. (authors)

KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

DEFF Research Database (Denmark)

Amyere, Mustapha; Vogt, Thomas; Hoo, Joe

2011-01-01

by familial café-au-lait spots and skin fold freckling, caused by mutations in SPRED1. We performed a genome-wide linkage analysis in seven families with FPHH, and identified linkage on 12q21.12-q22, which overlaps with the DUH2 locus. We investigated whether KITLG in the locus is mutated in FPHH. We......Familial progressive hyper- and hypopigmentation (FPHH) is thought to be an autosomal dominant disorder with reduced penetrance. Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented......-strand in KITLG, suggesting its important role in the activation of the KITLG receptor c-Kit. In aggregate, mutations in a single gene cause various pigmentation disorders: FPH, FPHH, and likely DUH2. Therefore, KITLG is an important modulator of skin pigmentation.Journal of Investigative Dermatology advance...

Beliefs about causation of schizophrenia: do Indian families believe in supernatural causes?

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Srinivasan, T N; Thara, R

2001-03-01

Beliefs about the causation of schizophrenia could influence the attitudes patients' families adopt towards the patient and may also influence their help-seeking behaviour. Indian families have been typically described as often believing in causes like supernatural forces and therefore seeking help from magico-religious healers. In the changing mental health scenario in India, this impression needs verification. Key relatives living with 254 chronic schizophrenia patients were interviewed and asked to name the causes they believed were behind the illness. A list of possible causes was provided for the families to select from, and relatives were also encouraged to mention other possible causes, not featured in the list. The possible causes identified and the factors related to attributions made were analysed. A supernatural cause was named by only 12% of the families and as the only cause by 5%. Psychosocial stress was most commonly cited cause, followed by personality defect and heredity. A small number of families (14%) could not name any cause and 39% named more than one cause. Patient gender and education, duration of illness and the key relative's education and the nature of relationship were related to the type of causal attributions made. Families living with patients suffering chronic schizophrenia receiving treatment in urban India rarely subscribe to the idea of supernatural causation of the illness. The causal attributions made by them are fairly rational and understandable, given the relative lack of exposure to proper information about the illness.

The effect of the Nintendo Wii Fit on balance control and gross motor function of children with spastic hemiplegic cerebral palsy

NARCIS (Netherlands)

Jelsma, Jennifer; Pronk, Marieke; Ferguson, Gillian; Jelsma-Smit, Dorothee

2013-01-01

Objective: To study the impact of training using the Nintendo Wii Fit in 14 children with spastic hemiplegic cerebral palsy. Methods: A single-subject single blinded design with multiple subjects and baselines was utilised. Interactive video gaming (IVG) in lieu of regular physiotherapy was given

Clasificación difusa de la marcha hemipléjica utilizando indicadores cinemáticos en pelvis (Fuzzy Classification of hemiplegic gait using kinematic indicators in pelvis

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Ubaldo Padilla-Liendo

2015-05-01

Full Text Available This research aims to model fuzzy characteristics of hemiplegic indicators in the pelvis. These indicators are consistent with those used by specialists to classify spastic hemiplegia following the classification proposed by Dr. Gage. The sample consisted of 83 patients with motor dysfunction subtype of spastic hemiplegia. These patients have been treated with protocols of Children's Orthopedic Hospital (HOI in Caracas, Venezuela, between 1999 and 2008. Using statistical tools to indicators in pelvis, the average, the standard deviation and analysis of variance (ANOVA are calculated. These statistics are suitable for building a fuzzy model with membership functions to discriminate types of hemiplegia comparable to the real world. If ANOVA has a value of p << 0.05; hemiplegic indicators in the pelvis are appropriate for the classification. 75% of records were processed and the remaining 25% were used to validate the results according to membership degree and sensitivity. The sensitivity obtained was 89% for type 1, 100% for type 2, 67% for type 3 and 90% for type 4. Experts said that the terms that describe the indicators pelvis, have a natural language, which allows classifying hemiplegic patients in a fuzzy way by degrees of membership

Motion analysis of wheelchair propulsion movements in hemiplegic patients: effect of a wheelchair cushion on suppressing posterior pelvic tilt.

Science.gov (United States)

Kawada, Kyohei; Matsuda, Tadamitsu; Takanashi, Akira; Miyazima, Shigeki; Yamamoto, Sumiko

2015-03-01

[Purpose] This study sought to ascertain whether, in hemiplegic patients, the effect of a wheelchair cushion to suppress pelvic posterior tilt when initiating wheelchair propulsion would continue in subsequent propulsions. [Subjects] Eighteen hemiplegic patients who were able to propel a wheelchair in a seated position participated in this study. [Methods] An adjustable wheelchair was fitted with a cushion that had an anchoring function, and a thigh pad on the propulsion side was removed. Propulsion movements from the seated position without moving through three propulsion cycles were measured using a three-dimensional motion analysis system, and electromyography was used to determine the angle of pelvic posterior tilt, muscle activity of the biceps femoris long head, and propulsion speed. [Results] Pelvic posterior tilt could be suppressed through the three propulsion cycles, which served to increase propulsion speed. Muscle activity of the biceps femoris long head was highest when initiating propulsion and decreased thereafter. [Conclusion] The effect of the wheelchair cushion on suppressing pelvic posterior tilt continued through three propulsion cycles.

Effect of Rocker Bar Ankle Foot Orthosis on Functional Mobility in Post-Stroke Hemiplegic Patients: Timed Up and Go and Gait Speed Assessments

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Farzad Farmani

2016-03-01

Discussion: RAFO led to a significant improvement in functional mobility in hemiplegic patients post stroke. This may be due to the positive effect of rocker modification on improving push off and transferring weight during the stance phase of gait.

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.

Science.gov (United States)

Gormley, Padhraig; Kurki, Mitja I; Hiekkala, Marjo Eveliina; Veerapen, Kumar; Häppölä, Paavo; Mitchell, Adele A; Lal, Dennis; Palta, Priit; Surakka, Ida; Kaunisto, Mari Anneli; Hämäläinen, Eija; Vepsäläinen, Salli; Havanka, Hannele; Harno, Hanna; Ilmavirta, Matti; Nissilä, Markku; Säkö, Erkki; Sumelahti, Marja-Liisa; Liukkonen, Jarmo; Sillanpää, Matti; Metsähonkala, Liisa; Koskinen, Seppo; Lehtimäki, Terho; Raitakari, Olli; Männikkö, Minna; Ran, Caroline; Belin, Andrea Carmine; Jousilahti, Pekka; Anttila, Verneri; Salomaa, Veikko; Artto, Ville; Färkkilä, Markus; Runz, Heiko; Daly, Mark J; Neale, Benjamin M; Ripatti, Samuli; Kallela, Mikko; Wessman, Maija; Palotie, Aarno

2018-05-16

Complex traits, including migraine, often aggregate in families, but the underlying genetic architecture behind this is not well understood. The aggregation could be explained by rare, penetrant variants that segregate according to Mendelian inheritance or by the sufficient polygenic accumulation of common variants, each with an individually small effect, or a combination of the two hypotheses. In 8,319 individuals across 1,589 migraine families, we calculated migraine polygenic risk scores (PRS) and found a significantly higher common variant burden in familial cases (n = 5,317, OR = 1.76, 95% CI = 1.71-1.81, p = 1.7 × 10 -109 ) compared to population cases from the FINRISK cohort (n = 1,101, OR = 1.32, 95% CI = 1.25-1.38, p = 7.2 × 10 -17 ). The PRS explained 1.6% of the phenotypic variance in the population cases and 3.5% in the familial cases (including 2.9% for migraine without aura, 5.5% for migraine with typical aura, and 8.2% for hemiplegic migraine). The results demonstrate a significant contribution of common polygenic variation to the familial aggregation of migraine. Copyright © 2018 Elsevier Inc. All rights reserved.

The perception of peripersonal space in right and left brain damage hemiplegic patients

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Angela eBartolo

2014-01-01

Full Text Available Peripersonal space, as opposed to extrapersonal space, is the space that contains reachable objects and in which multisensory and sensorimotor integration is enhanced. Thus, the perception of peripersonal space requires combining information on the spatial properties of the environment with information on the current capacity to act. In support of this, recent studies have provided converging evidences that perceiving objects in peripersonal space activates a neural network overlapping with that subtending voluntary motor action and motor imagery. Other studies have also underlined the dominant role of the right hemisphere in motor planning and of the left hemisphere in on-line motor guiding, respectively. In the present study, we investigated the effect of a right or left hemiplegia in the perception of peripersonal space. 16 hemiplegic patients with brain damage to the left (LH or right (RH hemisphere and 8 matched healthy controls (HC performed a colour discrimination, a motor imagery and a reachability judgment task. Analyses of response times and accuracy revealed no variation among the three groups in the colour discrimination task, suggesting the absence of any specific perceptual or decisional deficits in the patient groups. In contrast, the patient groups revealed longer response times in the motor imagery task when performed in reference to the hemiplegic arm (RH and LH or to the healthy arm (RH. Moreover, RH group showed longer response times in the reachability judgement task, but only for stimuli located at the boundary of peripersonal space, which was furthermore significantly reduced in size. Considered together, these results confirm the crucial role of the motor system in motor imagery task and the perception of peripersonal space. They also revealed that right hemisphere damage has a more detrimental effect on reachability estimates, suggesting that motor planning processes contribute specifically to the perception of

Increased GABA-A receptor binding and reduced connectivity at the motor cortex in children with hemiplegic cerebral palsy: a multimodal investigation using 18F-fluoroflumazenil PET, immunohistochemistry, and MR imaging.

Science.gov (United States)

Park, Hae-Jeong; Kim, Chul Hoon; Park, Eun Sook; Park, Bumhee; Oh, So Ra; Oh, Maeng-Keun; Park, Chang Il; Lee, Jong Doo

2013-08-01

γ-aminobutyric acid (GABA)-A receptor-mediated neural transmission is important to promote practice-dependent plasticity after brain injury. This study investigated alterations in GABA-A receptor binding and functional and anatomic connectivity within the motor cortex in children with cerebral palsy (CP). We conducted (18)F-fluoroflumazenil PET on children with hemiplegic CP to investigate whether in vivo GABA-A receptor binding is altered in the ipsilateral or contralateral hemisphere of the lesion site. To evaluate changes in the GABA-A receptor subunit after prenatal brain injury, we performed GABA-A receptor immunohistochemistry using rat pups with a diffuse hypoxic ischemic insult. We also performed diffusion tensor MR imaging and resting-state functional MR imaging on the same children with hemiplegic CP to investigate alterations in anatomic and functional connectivity at the motor cortex with increased GABA-A receptor binding. In children with hemiplegic CP, the (18)F-fluoroflumazenil binding potential was increased within the ipsilateral motor cortex. GABA-A receptors with the α1 subunit were highly expressed exclusively within cortical layers III, IV, and VI of the motor cortex in rat pups. The motor cortex with increased GABA-A receptor binding in children with hemiplegic CP had reduced thalamocortical and corticocortical connectivity, which might be linked to increased GABA-A receptor distribution in cortical layers in rats. Increased expression of the GABA-A receptor α1 subunit within the ipsilateral motor cortex may be an important adaptive mechanism after prenatal brain injury in children with CP but may be associated with improper functional connectivity after birth and have adverse effects on the development of motor plasticity.

TO STUDY THE EFFECT OF PLAY THERAPY AND CHILD FRIENDLY CONSTRAINT INDUCED MOMEMENT THERAPY TO IMPROVE HAND FUNCTION IN SPASTIC HEMIPLEGIC CEREBRAL PALSY CHILDREN: A COMPARATIVE STUDY

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Anjuman Nahar

2015-12-01

Full Text Available Background: Cerebral Palsy (CP is a neurodevelopmental disorder caused by nonprogressive lesion in the developing brain. The early central nervous system (CNS damage results in chronic physical disabilities and often includes sensory impairments. In addition CP is often associated with epilepsy and abnormalities of speech, vision, and intellect; it is the selective vulnerability of the brains motor systems that defines the disorder. Child friendly CIMT involves intensive targeted practice with the involved extremity coordination above and beyond their unilateral impairments. Ply Therapy is designed for active involvement of child in performing various tasks. The aim of the study is to evaluate the effectiveness of constraint induced movement therapy and play therapy to improve hand function in spastic hemiplegic cerebral palsy children. Methods: A sample of 30 patients was divided in two groups, each group having 15 children. Convenient sampling was done on the basis of base line assessment and diagnosis of their condition. Duration of the study was 3 months and data collection started at day 0 and at the end of 90 days. Children in group A wore a bivalve plaster cast on the non-involved upper extremity from shoulder to finger tips for the entire time during the session lasting for 2 hours and the plaster cast was removed at the end of the session. B group consists of 15 subjects who received play therapy. The treatment program was conducted individually and adjusted to current needs and abilities of each of the patients. Outcomes: Box and Block test, QOM scale and AOU scale. Results: It was found that there is an improvement in the hand function on application of child friendly CIMT in the patients with spastic hemiplegic cerebral palsy which was found significant using the Mann-Whitney U test (p≤0.005. Conclusion: In this study it has been found that the use of Child friendly CIMT and PLAY THERAPY produces significant improvement in hand

Novel GABRG2 mutations cause familial febrile seizures

Science.gov (United States)

Boillot, Morgane; Morin-Brureau, Mélanie; Picard, Fabienne; Weckhuysen, Sarah; Lambrecq, Virginie; Minetti, Carlo; Striano, Pasquale; Zara, Federico; Iacomino, Michele; Ishida, Saeko; An-Gourfinkel, Isabelle; Daniau, Mailys; Hardies, Katia; Baulac, Michel; Dulac, Olivier; Leguern, Eric; Nabbout, Rima

2015-01-01

Objective: To identify the genetic cause in a large family with febrile seizures (FS) and temporal lobe epilepsy (TLE) and subsequently search for additional mutations in a cohort of 107 families with FS, with or without epilepsy. Methods: The cohort consisted of 1 large family with FS and TLE, 64 smaller French families recruited through a national French campaign, and 43 Italian families. Molecular analyses consisted of whole-exome sequencing and mutational screening. Results: Exome sequencing revealed a p.Glu402fs*3 mutation in the γ2 subunit of the GABAA receptor gene (GABRG2) in the large family with FS and TLE. Three additional nonsense and frameshift GABRG2 mutations (p.Arg136*, p.Val462fs*33, and p.Pro59fs*12), 1 missense mutation (p.Met199Val), and 1 exonic deletion were subsequently identified in 5 families of the follow-up cohort. Conclusions: We report GABRG2 mutations in 5.6% (6/108) of families with FS, with or without associated epilepsy. This study provides evidence that GABRG2 mutations are linked to the FS phenotype, rather than epilepsy, and that loss-of-function of GABAA receptor γ2 subunit is the probable underlying pathogenic mechanism. PMID:27066572

[Asymmetries in dynamic plantar pressure distribution measurement in able-bodied gait: application to the study of the gait asymmetries in children with hemiplegic cerebral palsy].

Science.gov (United States)

Femery, V; Moretto, P; Renaut, H; Lensel, G; Thevenon, A

2002-03-01

The aim of this study was to analyse, firstly, the plantar pressure distribution in healthy subjects in order to validate or invalidate the previous studies results on the asymmetrical profile of the stance phase. The studies of asymmetries was based on the identification of a propulsive foot and a loading foot from a concept introduced by Viel. Secondly, the approach was applied to the study of gait asymmetries in two children with hemiplegic cerebral plasy. Thirty healthy control subjects and two hemiplegic children (H1 and H2) performed a walking test at self selected speed. The recordings of dynamic parameters were realized thanks to an in-shoe plantar pressure analysis system (Parotec, by Paromed Medizintechnik, GMBH, Germany). The pressure peaks were determined from the recording of pressures under eight footprint locations. A program calculated the sum of forces under the heel and determined the loading foot. By defect, the second foot is the propulsive foot. The asymmetrical profile of the human normal stance phase was validated. Under the heel, the pressure peaks lower by 28 % were noticed beneath the loading foot compared to the propulsive foot. Inversely, under the metatarsal heads and the hallux, the pressure peaks were greater by 32 % beneath the propulsive foot. For the two hemiplegic children, the plantar pressure profile equally highlighted significant differences between the unaffected and affected feet. The pressure peaks under the affected heel were respectively lower by 21 % and 97 % for H1 and H2. The loading function was found and associated to the affected limb. The propulsive function was not systematically found under the unaffected foot. The analysis of plantar pressure measurements during able-bodied gait showed differences between the two lower limbs. These dynamic asymmetries are the results of a natural functional organization of the supports differentiating a loading foot and a propulsive foot and corroborating the concept proposed by

Neuropsychological and MRI assessment of young adults with hemiplegic cerebral palsy

International Nuclear Information System (INIS)

Fukamachi, Makoto; Tsuru, Akira; Morikawa, Minoru; Moriuchi, Hiroyuki; Kawaguchi, Yukiyoshi

2004-01-01

We assessed 12 young adults with hemiplegic cerebral palsy, aged from 14 to 33 years, by intellectual quotient (IQ) and magnetic resonance imaging (MRI), and obtained the following findings. First, the IQ scores were relatively lower than those predicted by their social activities. Second, there were two cases who seemed to have right or bilateral hemisphere representatives of language; their IQ scores were within normal range, while MRI demonstrated extensive brain damages including usual ones in language areas. Third, IQ scores and MRI findings were correlated to some extent; however, a case of limited brain damage on MRI had low IQ score, while five cases of brain damage located excluding their language areas had normal or high IQ scores. The results of the present study indicate the necessity of follow-up MRI for prospective observation of the brain damage acquired at or around birth. (author)

Causes of death in familial adenomatous polyposis

DEFF Research Database (Denmark)

Galle, T S; Juel, K; Bülow, S

1999-01-01

The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due to du...... to duodenal/periampullary cancer and desmoid tumours. The aim of this study was to examine the causes of death with special emphasis on duodenal/periampullary cancer.......The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due...

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

Science.gov (United States)

Chiang, Huei-Hsin; Rosvall, Lina; Brohede, Jesper; Axelman, Karin; Björk, Behnosh F; Nennesmo, Inger; Robins, Tiina; Graff, Caroline

2008-11-01

Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by cognitive impairment, language dysfunction, and/or changes in personality. Recently it has been shown that progranulin (GRN) mutations can cause FTD as well as other neurodegenerative phenotypes. DNA from 30 family members, of whom seven were diagnosed with FTD, in the Karolinska family was available for GRN sequencing. Fibroblast cell mRNA from one affected family member and six control individuals was available for relative quantitative real-time polymerase chain reaction to investigate the effect of the mutation. Furthermore, the cDNA of an affected individual was sequenced. Clinical and neuropathologic findings of a previously undescribed family branch are presented. A frameshift mutation in GRN (g.102delC) was detected in all affected family members and absent in four unaffected family members older than 70 years. Real-time polymerase chain reaction data showed an approximately 50% reduction of GRN fibroblast mRNA in an affected individual. The mutated mRNA transcripts were undetectable by cDNA sequencing. Segregation and RNA analyses showed that the g.102delC mutation, previously reported, causes FTD in the Karolinska family. Our findings add further support to the significance of GRN in FTD etiology and the presence of modifying genes, which emphasize the need for further studies into the mechanisms of clinical heterogeneity. However, the results already call for attention to the complexity of predictive genetic testing of GRN mutations.

Role of SDF1/CXCR4 Interaction in Experimental Hemiplegic Models with Neural Cell Transplantation

Directory of Open Access Journals (Sweden)

Noboru Suzuki

2012-02-01

Full Text Available Much attention has been focused on neural cell transplantation because of its promising clinical applications. We have reported that embryonic stem (ES cell derived neural stem/progenitor cell transplantation significantly improved motor functions in a hemiplegic mouse model. It is important to understand the molecular mechanisms governing neural regeneration of the damaged motor cortex after the transplantation. Recent investigations disclosed that chemokines participated in the regulation of migration and maturation of neural cell grafts. In this review, we summarize the involvement of inflammatory chemokines including stromal cell derived factor 1 (SDF1 in neural regeneration after ES cell derived neural stem/progenitor cell transplantation in mouse stroke models.

Familial gigantism caused by an NSD1 mutation.

NARCIS (Netherlands)

Haelst, M.M. van; Hoogeboom, J.J.; Baujat, G.; Bruggenwirth, H.T.; Laar, I. van de; Coleman, K.; Rahman, N.; Niermeijer, M.F.; Drop, S.L.; Scambler, P.J.

2005-01-01

A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies,

Development and Implementation of an End-Effector Upper Limb Rehabilitation Robot for Hemiplegic Patients with Line and Circle Tracking Training

Directory of Open Access Journals (Sweden)

Yali Liu

2017-01-01

Full Text Available Numerous robots have been widely used to deliver rehabilitative training for hemiplegic patients to improve their functional ability. Because of the complexity and diversity of upper limb motion, customization of training patterns is one key factor during upper limb rehabilitation training. Most of the current rehabilitation robots cannot intelligently provide adaptive training parameters, and they have not been widely used in clinical rehabilitation. This article proposes a new end-effector upper limb rehabilitation robot, which is a two-link robotic arm with two active degrees of freedom. This work investigated the kinematics and dynamics of the robot system, the control system, and the realization of different rehabilitation therapies. We also explored the influence of constraint in rehabilitation therapies on interaction force and muscle activation. The deviation of the trajectory of the end effector and the required trajectory was less than 1 mm during the tasks, which demonstrated the movement accuracy of the robot. Besides, results also demonstrated the constraint exerted by the robot provided benefits for hemiplegic patients by changing muscle activation in the way similar to the movement pattern of the healthy subjects, which indicated that the robot can improve the patient’s functional ability by training the normal movement pattern.

Effect of modified constraint induced movement therapy on weight bearing and protective extension in children with hemiplegic cerebral palsy

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Masoud Gharib

2012-01-01

Full Text Available Background: Constraint induced movement therapy is one of the new therapeutic interventions that limits the performance of intact upper limb with increased use of the affected limb. Aim of this study was to investigate the effects of modified constraint induced movement therapy on weight bearing & protective extension in children with hemiplegic cerebral palsy.Methods: 21 hemiplegic children were selected and randomly divided into experimental and control groups. Common Practices of Occupational Therapy applied for 6 weeks in both groups equally and test group received constrain induced movement therapy for three hours every day. Weight-bearing and protective extension was measured based on quality of test skills of upper limbs (QUEST. Data analyzed using appropriated statistical methods. Results: 11 children in the experimental group (7 girls, 4 boys with mean age 47.2 ± 55.5 months and 10 children in the control group (5 girls, 5 boys with mean age 19.2 ± 10.5 months were studied. No significant difference observed before and after six weeks intervention between two groups (P>0.05. There was a significant change before and after six weeks intervention in both subscales (P<0.05.Conclusion: This study showed that modified constraint induced movement therapy may affect weight bearing, but has no effect on the protective extension.

Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

DEFF Research Database (Denmark)

Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

2012-01-01

The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium–potassium pump (Na+/K+-ATPase). Intriguingly, patients...... with classical FHM2 and RDP symptoms additionally suffer from other manifestations, such as epilepsy/seizures and developmental disabilities. Recent studies of FHM2 and RDP mouse models provide valuable tools for dissecting the vital roles of the Na+/K+-ATPases, and we discuss their relevance to the complex...

Are the cause(s) responsible for urban-rural differences in schizophrenia risk rooted in families or individuals?

DEFF Research Database (Denmark)

Pedersen, Carsten Bøcker; Mortensen, Preben Bo

2006-01-01

Many studies have identified urban-rural differences in schizophrenia risk. Hypothetical underlying cause(s) may include toxic exposures, diet, infections, and selective migration. The authors investigated whether the underlying cause(s) responsible for the urban-rural differences were rooted...... evaluated whether the nearest older sibling's place of birth had an independent effect on schizophrenia risk. If the cause(s) responsible for the urban-rural differences are rooted in individuals only, the nearest older sibling's place of birth should have no independent effect. In this analysis....... Some of the cause(s) responsible for the urban-rural differences in schizophrenia risk are rooted in families, but some might also be rooted in individuals....

Local cerebral blood flow and local oxygen consumption in prolonged hemiplegic migraine

International Nuclear Information System (INIS)

Baron, J.C.; Lebrun-Grandie, P.; Serdaru, M.; Bousser, M.G.; Lhermitte, F.; Cabanis, E.

1982-09-01

This work gives the results of a study by positron emission tomography of the cerebral blood flow (CBF), oxygen-extraction rate (O 2 E) and oxygen consumption (CMRO 2 ) during severe and prolonged attack of hemiplegic migraine. The salient facts observed are a high (CBF) in the brain hemisphere affected (ruling out the hypothesis of a persistent cerebral ischemia), together with a collapsed O 2 E (''luxury perfusion'') and especially preservation of the CMRO 2 suggesting a decoupling not only between CBF and CMRO 2 but also between CMRO 2 and functional state of the tissue. Some time after the attack a new study showed the recoupling between CBF and CMRO 2 , but with the latter reduced in the affected hemisphere although the clinical and tomodensitometric state had returned to normal. These new observations should not however be improperly generalised to all migraines, given the unusual characteristics of the disorder in our patient [fr

[The painful hemiplegic shoulder: effects of exercises program according to Bobath].

Science.gov (United States)

Gialanella, B; Benvenuti, P; Santoro, R

2004-01-01

To verify whether a shoulder exercises program according to Bobath reduced the shoulder pain in hemiplegic patients. We studied a total of 20 patients with pain shoulder. Ten patients are assigned to group R (submitted to rehabilitation) and ten to group R+E (submitted to rehabilitation and shoulder exercises program according to Bobath). Shoulder exercises program was self-performed by the patients after training in occupational rehabilitation unit. The assessment of patients was performed at admission to hospital, at discharge and three months after discharge. Shoulder pain (VAS), shoulder range of motion, disability (FIM), motor function (Fugl-Meyer scale) and spasticity (Ashworth scale) of paretic arm were evaluated in all patients. VAS was similar in both groups at admission and decreased in group R+E at discharge without reaching significant differences (p=0.253). On the contrary, VAS and Shoulder range of motion improved statistically in group R+E (p=0.0001, pBobath reduces shoulder pain of patients with hemiplegia if it is performed daily and for a long period of time.

Home-based hand rehabilitation with a robotic glove in hemiplegic patients after stroke: a pilot feasibility study.

Science.gov (United States)

Bernocchi, Palmira; Mulè, Chiara; Vanoglio, Fabio; Taveggia, Giovanni; Luisa, Alberto; Scalvini, Simonetta

2018-03-01

To evaluate the feasibility and safety of home rehabilitation of the hand using a robotic glove, and, in addition, its effectiveness, in hemiplegic patients after stroke. In this non-randomized pilot study, 21 hemiplegic stroke patients (Ashworth spasticity index ≤ 3) were prescribed, after in-hospital rehabilitation, a 2-month home-program of intensive hand training using the Gloreha Lite glove that provides computer-controlled passive mobilization of the fingers. Feasibility was measured by: number of patients who completed the home-program, minutes of exercise and number of sessions/patient performed. Safety was assessed by: hand pain with a visual analog scale (VAS), Ashworth spasticity index for finger flexors, opponents of the thumb and wrist flexors, and hand edema (circumference of forearm, wrist and fingers), measured at start (T0) and end (T1) of rehabilitation. Hand motor function (Motricity Index, MI), fine manual dexterity (Nine Hole Peg Test, NHPT) and strength (Grip test) were also measured at T0 and T1. Patients performed, over a mean period 56 (49-63) days, a total of 1699 (1353-2045) min/patient of exercise with Gloreha Lite, 5.1 (4.3-5.8) days/week. Seventeen patients (81%) completed the full program. The mean VAS score of hand pain, Ashworth spasticity index and hand edema did not change significantly at T1 compared to T0. The MI, NHPT and Grip test improved significantly (p = 0.0020, 0.0156 and 0.0024, respectively) compared to baseline. Gloreha Lite is feasible and safe for use in home rehabilitation. The efficacy data show a therapeutic effect which need to be confirmed by a randomized controlled study.

Genetic defect causing familial Alzheimer's disease maps on chromosome 21

Energy Technology Data Exchange (ETDEWEB)

St. George-Hyslop, P.H.; Tanzi, R.E.; Polinsky, R.J.; Haines, J.L.; Nee, L.; Watkins, P.C.; Myers, R.H.; Feldman, R.G.; Pollen, D.; Drachman, D.; Growdon, J.

1987-02-20

Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.

Causes of Indiscipline in the Family and Its Effect on the Child ...

African Journals Online (AJOL)

Causes of Indiscipline in the Family and Its Effect on the Child. ... Log in or Register to get access to full text downloads. ... revealed causes of indiscipline in the home to include lack of attention/love from parents, poor parent-child relationship, ...

Hot-spot KIF5A mutations cause familial ALS

Science.gov (United States)

Yilmaz, Rüstem; Müller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Günther, Kornelia; Hübers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Klopstock, Thomas; de Carvalho, Mamede; Sperfeld, Anne; Borck, Guntram; Volk, Alexander E; Dorst, Johannes; Weis, Joachim; Otto, Markus; Schuster, Joachim; Del Tredici, Kelly; Braak, Heiko; Danzer, Karin M; Freischmidt, Axel; Meitinger, Thomas; Strom, Tim M; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Weyen, Ute; Hermann, Andreas; Hagenacker, Tim; Koch, Jan Christoph; Lingor, Paul; Göricke, Bettina; Zierz, Stephan; Baum, Petra; Wolf, Joachim; Winkler, Andrea; Young, Peter; Bogdahn, Ulrich; Prudlo, Johannes; Kassubek., Jan

2018-01-01

Abstract Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis. Using whole exome sequencing followed by rare variant analysis of 426 patients with familial amyotrophic lateral sclerosis and 6137 control subjects, we detected an enrichment of KIF5A splice-site mutations in amyotrophic lateral sclerosis (2/426 compared to 0/6137 in controls; P = 4.2 × 10−3), both located in a hot-spot in the C-terminus of the protein and predicted to affect splicing exon 27. We additionally show co-segregation with amyotrophic lateral sclerosis of two canonical splice-site mutations in two families. Investigation of lymphoblast cell lines from patients with KIF5A splice-site mutations revealed the loss of mutant RNA expression and suggested haploinsufficiency as the most probable underlying molecular mechanism. Furthermore, mRNA sequencing of a rare non-synonymous missense mutation (predicting p.Arg1007Gly) located in the C-terminus of the protein shortly upstream of the splice donor of exon 27 revealed defective KIF5A pre-mRNA splicing in respective patient-derived cell lines owing to abrogation of the donor site. Finally, the non-synonymous single nucleotide variant rs113247976 (minor allele frequency = 1.00% in controls, n = 6137), also located in the C-terminal region [p.(Pro986Leu) in exon 26], was significantly enriched in familial amyotrophic lateral sclerosis patients (minor

A comparative study of the effects of trunk exercise program in aquatic and land-based therapy on gait in hemiplegic stroke patients

OpenAIRE

Park, Byoung-Sun; Noh, Ji-Woong; Kim, Mee-Young; Lee, Lim-Kyu; Yang, Seung-Min; Lee, Won-Deok; Shin, Yong-Sub; Kim, Ju-Hyun; Lee, Jeong-Uk; Kwak, Taek-Yong; Lee, Tae-Hyun; Park, Jaehong; Kim, Junghwan

2016-01-01

[Purpose] The purpose of this study was to compare the effects of aquatic and land-based trunk exercise program on gait in stroke patients. [Subjects and Methods] The subjects were 28 hemiplegic stroke patients (20 males, 8 females). The subjects performed a trunk exercise program for a total of four weeks. [Results] Walking speed and cycle, stance phase and stride length of the affected side, and the symmetry index of the stance phase significantly improved after the aquatic and land-based t...

Hot-spot KIF5A mutations cause familial ALS.

Science.gov (United States)

Brenner, David; Yilmaz, Rüstem; Müller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Günther, Kornelia; Hübers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Sendtner, Michael; Klopstock, Thomas; de Carvalho, Mamede; Sperfeld, Anne; Borck, Guntram; Volk, Alexander E; Dorst, Johannes; Weis, Joachim; Otto, Markus; Schuster, Joachim; Del Tredici, Kelly; Braak, Heiko; Danzer, Karin M; Freischmidt, Axel; Meitinger, Thomas; Strom, Tim M; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H

2018-01-12

Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis. Using whole exome sequencing followed by rare variant analysis of 426 patients with familial amyotrophic lateral sclerosis and 6137 control subjects, we detected an enrichment of KIF5A splice-site mutations in amyotrophic lateral sclerosis (2/426 compared to 0/6137 in controls; P = 4.2 × 10-3), both located in a hot-spot in the C-terminus of the protein and predicted to affect splicing exon 27. We additionally show co-segregation with amyotrophic lateral sclerosis of two canonical splice-site mutations in two families. Investigation of lymphoblast cell lines from patients with KIF5A splice-site mutations revealed the loss of mutant RNA expression and suggested haploinsufficiency as the most probable underlying molecular mechanism. Furthermore, mRNA sequencing of a rare non-synonymous missense mutation (predicting p.Arg1007Gly) located in the C-terminus of the protein shortly upstream of the splice donor of exon 27 revealed defective KIF5A pre-mRNA splicing in respective patient-derived cell lines owing to abrogation of the donor site. Finally, the non-synonymous single nucleotide variant rs113247976 (minor allele frequency = 1.00% in controls, n = 6137), also located in the C-terminal region [p.(Pro986Leu) in exon 26], was significantly enriched in familial amyotrophic lateral sclerosis patients (minor allele

Effects of early spasticity treatment on children with hemiplegic cerebral palsy: a preliminary study

Directory of Open Access Journals (Sweden)

Marise Bueno Zonta

2013-07-01

Full Text Available Objective To compare motor and functional performance of two groups of children with hemiplegic cerebral palsy (HCP. Only the study group (SG received early treatment of spasticity with botulinum neurotoxin type A (BXT-A. Methods Gross Motor Function Measure (GMFM, functional performance (Pediatric Evaluation of Disability Inventory - PEDI, range of movement, gait pattern (Physician Rating Scale - PRS and the speed of hand movements were considered. Results The SG, composed of 11 HCP (45.64±6.3 months, was assessed in relation to the comparison group, composed of 13 HCP (45.92±6.4 months. SG showed higher scores in four of the five GMFM dimensions, which included scores that were statistically significant for dimension B, and higher scores in five of the six areas evaluated in the PEDI. Active wrist extension, the speed of hand movements and PRS score were higher in the SG. Conclusion Children who received early BXT-A treatment for spasticity showed higher scores in motor and functional performance.

Recovery of atrophic leg muscles in the hemiplegics due to cerebrovascular accidents

International Nuclear Information System (INIS)

Odajima, Natsu; Ishiai, Sumio; Okiyama, Ryouichi; Furukawa, Tetsuo; Tsukagoshi, Hiroshi.

1988-01-01

Thirty-five patients with hemiplegia due to cerebrovascular accidents were studied with regared to the muscle wastings before and after rehabilitation training. Hemiplegics were composed of 12 improved and 23 non-improved patients. The CT scan was carried out at the midportion of the thigh and largest-diameter section of the calf. Muscle size of each cross-sectional area was measured on CT image and the increase of size (ΔS) in each muscle after training was calculated. The ΔS of quadriceps femoris was correlated with that of whole cross-section of the thigh. The gracilis in non-affected side was not correlated with that of whole muscles. In both legs, there was an increase in leg muscle size after training. These changes were nost marked in the non-affected side of the improved patients. After training the difference between the two limbs remained unchanged. Recovery of muscle wasting in both legs was seen first in the quadriceps in thigh and flexors in calf. Gracilis was relatively unchanged in comparison with other muscles. Remarkable increase of muscle size in non-affected side was worthwhile to note. (author)

"An Investigation Into The Interrater Reliability Of The Modified Ashworth Scale In The Assessment Of Muscle Spasticity In Hemiplegic Patients "

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N. Nokhostin-Ansari

2006-06-01

Full Text Available Background and Aim: Spasticity is a velocity-dependent increase in tonic stretch reflexes (muscle tone with exaggerated tendon jerks, resulting from hyperexcitability of the stretch reflex. The measurement of spasticity is necessary to determine the effect of treatments. The Modified Ashworth Scale is the most widely used method for assessing muscle spasticity in clinical practice and research. The purpose of this study was to investigate the interrater reliability of Modified Ashworth Scale in hemiplegic patients. Materials and Methods: Thirty subjects (16 males, 14 females with a mean age of 59.40 (SD =14.013 recruited. Shoulder adductor , elbow flexor , wrist dorsiflexor , hip adductor , knee extensor and ankle plantarflexor on the hemiplegic side were tested by two physiotherapists. Results: In the upper limb, the interrater reliability for shoulder adductor and elbow flexor muscles was fair (0.372 and 0.369, respectively. The reliability for the wrist flexors was good (0.612. The difference in Kappa value for the proximal muscle (shoulder adductor; 0.372 and the distal muscle (wrist flexor; 0.612 was significant (²X=33.87, df=1, p0.05. The mean value for the upper limb (0.505 and the lower limb (0,.516 was not significantly different (²X=0.1407, df=1, p>0.05. Conclusion: The interrater reliability of Modified Ashworth Scale was not good . The limb, upper or lower, had no significant effect on the reliability. In the upper limb, the reliability for the proximal and distal muscle was significantly different. However. The difference in the lower limb was not significant.When using the scale, one should consider it's limitation.

Effect of Rhythmic Auditory Stimulation on Hemiplegic Gait Patterns.

Science.gov (United States)

Shin, Yoon-Kyum; Chong, Hyun Ju; Kim, Soo Ji; Cho, Sung-Rae

2015-11-01

The purpose of our study was to investigate the effect of gait training with rhythmic auditory stimulation (RAS) on both kinematic and temporospatial gait patterns in patients with hemiplegia. Eighteen hemiplegic patients diagnosed with either cerebral palsy or stroke participated in this study. All participants underwent the 4-week gait training with RAS. The treatment was performed for 30 minutes per each session, three sessions per week. RAS was provided with rhythmic beats using a chord progression on a keyboard. Kinematic and temporospatial data were collected and analyzed using a three-dimensional motion analysis system. Gait training with RAS significantly improved both proximal and distal joint kinematic patterns in hip adduction, knee flexion, and ankle plantar flexion, enhancing the gait deviation index (GDI) as well as ameliorating temporal asymmetry of the stance and swing phases in patients with hemiplegia. Stroke patients with previous walking experience demonstrated significant kinematic improvement in knee flexion in mid-swing and ankle dorsiflexion in terminal stance. Among stroke patients, subacute patients showed a significantly increased GDI score compared with chronic patients. In addition, household ambulators showed a significant effect on reducing anterior tilt of the pelvis with an enhanced GDI score, while community ambulators significantly increased knee flexion in mid-swing phase and ankle dorsiflexion in terminal stance phase. Gait training with RAS has beneficial effects on both kinematic and temporospatial patterns in patients with hemiplegia, providing not only clinical implications of locomotor rehabilitation with goal-oriented external feedback using RAS but also differential effects according to ambulatory function.

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

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Konno, Takuya; Blackburn, Patrick R; Rozen, Todd D; van Gerpen, Jay A; Ross, Owen A; Atwal, Paldeep S; Wszolek, Zbigniew K

2018-04-11

To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing. In this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation. For clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation. Copyright © 2018 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

Evolution of surface motor activation zones in hemiplegic patients during 20 sessions of FES therapy with multi-pad electrodes

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Jovana Malešević

2016-06-01

Full Text Available The purpose of this study was to examine surface motor activation zones for wrist, fingers and thumb extension movements and their temporal change during 20 therapy sessions using advanced multi-pad functional electrical stimulation system. Results from four hemiplegic patients indicate that certain zones have higher probability of eliciting each of the target movements. However, mutual overlap and variations of the zones are present not just between the subjects, but also on the intrasubject level, reflected through these session to session transformations of the selected virtual electrodes. The obtained results could be used as a priori knowledge for semi-automated optimization algorithm and could shorten the time required for calibration of the multi-pad electrode.

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Science.gov (United States)

Chang, Wendy; Winder, Thomas L; LeDuc, Charles A; Simpson, Lynn L; Millar, William S; Dungan, Jeffrey; Ginsberg, Norman; Plaga, Stacey; Moore, Steven A; Chung, Wendy K

2009-06-01

Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population. Copyright (c) 2009 John Wiley & Sons, Ltd.

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Science.gov (United States)

Liu, Xiaowen; Tang, Zhaohui; Li, Chang; Yang, Kangjuan; Gan, Guanqi; Zhang, Zibo; Liu, Jingyu; Jiang, Fagang; Wang, Qing; Liu, Mugen

2010-03-17

To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP). Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proband DNA to screen the disease-causing gene mutation. Restriction fragment length polymorphism (RFLP) analysis and direct DNA sequence analysis were done to demonstrate co-segregation of the USH2A mutations with the family disease. One hundred normal controls were used without the mutations. The disease-causing gene in this Chinese family was linked to the USH2A locus on chromosome 1q41. Direct DNA sequence analysis of USH2A identified two novel mutations in the patients: one missense mutation p.G1734R in exon 26 and a splice site mutation, IVS32+1G>A, which was found in the donor site of intron 32 of USH2A. Neither the p.G1734R nor the IVS32+1G>A mutation was found in the unaffected family members or the 100 normal controls. One patient with a homozygous mutation displayed only RP symptoms until now, while three patients with compound heterozygous mutations in the family of study showed both RP and hearing impairment. This study identified two novel mutations: p.G1734R and IVS32+1G>A of USH2A in a four-generation Chinese RP family. In this study, the heterozygous mutation and the homozygous mutation in USH2A may cause Usher syndrome Type II or RP, respectively. These two mutations expand the mutant spectrum of USH2A.

A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.

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Tian, Qi; Li, Yunping; Kousar, Rizwana; Guo, Hui; Peng, Fenglan; Zheng, Yu; Yang, Xiaohua; Long, Zhigao; Tian, Runyi; Xia, Kun; Lin, Haiying; Pan, Qian

2017-01-07

Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome. Whole-exome sequencing combined with RT-PCR and Sanger sequencing was used to search for a genetic cause underlying the disease phenotype. Whole-exome sequencing identified in all affected individuals of the family a novel donor splicing site mutation (NM_198270: c.1045 + 2T > A) in intron 4 of the gene NHS, which maps to chromosome Xp22.13. The identified mutation results in an RNA processing defect causing a 416-nucleotide addition to exon 4 of the mRNA transcript, likely producing a truncated NHS protein. The donor splicing site mutation NM_198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. This research broadens the spectrum of NHS gene mutations, contributing to our understanding of the molecular genetics of NHS.

Principal components analysis of an evaluation of the hemiplegic subject based on the Bobath approach.

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Corriveau, H; Arsenault, A B; Dutil, E; Lepage, Y

1992-01-01

An evaluation based on the Bobath approach to treatment has previously been developed and partially validated. The purpose of the present study was to verify the content validity of this evaluation with the use of a statistical approach known as principal components analysis. Thirty-eight hemiplegic subjects participated in the study. Analysis of the scores on each of six parameters (sensorium, active movements, muscle tone, reflex activity, postural reactions, and pain) was evaluated on three occasions across a 2-month period. Each time this produced three factors that contained 70% of the variation in the data set. The first component mainly reflected variations in mobility, the second mainly variations in muscle tone, and the third mainly variations in sensorium and pain. The results of such exploratory analysis highlight the fact that some of the parameters are not only important but also interrelated. These results seem to partially support the conceptual framework substantiating the Bobath approach to treatment.

Postural control during sit-to-stand movement and its relationship with upright position in children with hemiplegic spastic cerebral palsy and in typically developing children.

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Pavão, Silvia L; Santos, Adriana N; Oliveira, Ana B; Rocha, Nelci A C F

2015-01-01

The purpose of this study was to compare postural control in typically developing (TD) children and children with cerebral palsy (CP) during the sit-to-stand (STS) movement and to assess the relationship between static (during static standing position) and dynamic postural control (during STS movement) in both groups. The center of pressure (CoP) behavior of 23 TD children and 6 children with spastic hemiplegic CP (Gross Motor Function Classification System [GMFCS] I and II) was assessed during STS movement performance and during static standing conditions with the use of a force plate. The data obtained from the force plate were used to calculate CoP variables: anteroposterior (AP) and mediolateral (ML) amplitudes of CoP displacement and the area and velocity of CoP oscillation. According to the Mann-Whitney test, children with CP exhibited higher CoP values in all of the analyzed variables during the beginning of STS movement. Pearson's correlation verified a positive correlation between the CoP variables during both static conditions and the performance of STS movement. Children with spastic hemiplegic CP present major postural oscillations during the beginning of STS movement compared with typical children. Moreover, the observed relationship between postural control in static and dynamic conditions reveals the importance of body control in the static position for the performance of functional activities that put the body in motion, such as STS movement.

Hepatic steatosis does not cause insulin resistance in people with familial hypobetalipoproteinaemia

NARCIS (Netherlands)

Visser, M. E.; Lammers, N. M.; Nederveen, A. J.; van der Graaf, M.; Heerschap, A.; Ackermans, M. T.; Sauerwein, H. P.; Stroes, E. S.; Serlie, M. J.

2011-01-01

Hepatic steatosis is strongly associated with hepatic and whole-body insulin resistance. It has proved difficult to determine whether hepatic steatosis itself is a direct cause of insulin resistance. In patients with familial hypobetalipoproteinaemia (FHBL), hepatic steatosis is a direct consequence

Maintained Hand Function and Forearm Bone Health 14 Months After an In-Home Virtual-Reality Videogame Hand Telerehabilitation Intervention in an Adolescent With Hemiplegic Cerebral Palsy

OpenAIRE

Golomb, Meredith R.; Warden, Stuart J.; Fess, Elaine; Rabin, Bryan; Yonkman, Janell; Shirley, Bridget; Burdea, Grigore C.

2011-01-01

Virtual reality videogames can be used to motivate rehabilitation, and telerehabilitation can be used to improve access to rehabilitation. These uses of technology to improve health outcomes are a burgeoning area of rehabilitation research. So far, there is a lack of reports of long-term outcomes of these types of interventions. The authors report a 15-year-old boy with hemiplegic cerebral palsy and epilepsy because of presumed perinatal stroke who improved his plegic hand function and increa...

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.

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Rocio Toro

Full Text Available Dilated cardiomyopathy, a major cause of chronic heart failure and cardiac transplantation, is characterized by left ventricular or biventricular heart dilatation. In nearly 50% of cases the pathology is inherited, and more than 60 genes have been reported as disease-causing. However, in 30% of familial cases the mutation remains unidentified even after comprehensive genetic analysis. This study clinically and genetically assessed a large Spanish family affected by dilated cardiomyopathy to search for novel variations.Our study included a total of 100 family members. Clinical assessment was performed in alive, and genetic analysis was also performed in alive and 1 deceased relative. Genetic screening included resequencing of 55 genes associated with sudden cardiac death, and Sanger sequencing of main disease-associated genes. Genetic analysis identified a frame-shift variation in BAG3 (p.H243Tfr*64 in 32 patients. Genotype-phenotype correlation identified substantial heterogeneity in disease expression. Of 32 genetic carriers (one deceased, 21 relatives were clinically affected, and 10 were asymptomatic. Seventeen of the symptomatic genetic carriers exhibited proto-diastolic septal knock by echocardiographic assessment.We report p.H243Tfr*64_BAG3 as a novel pathogenic variation responsible for familial dilated cardiomyopathy. This variation correlates with a more severe phenotype of the disease, mainly in younger individuals. Genetic analysis in families, even asymptomatic individuals, enables early identification of individuals at risk and allows implementation of preventive measures.

Education and adult cause-specific mortality--examining the impact of family factors shared by 871 367 Norwegian siblings

DEFF Research Database (Denmark)

Næss, Oyvind; Hoff, Dominic A; Lawlor, Debbie

2012-01-01

To estimate the impact family factors shared by siblings has on the association between length of education and cause-specific mortality in adulthood.......To estimate the impact family factors shared by siblings has on the association between length of education and cause-specific mortality in adulthood....

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

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Myo-Jing Kim

2014-12-01

Full Text Available Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP. Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T. This is the first report of such a case in Korea.

Postural control during sit-to-stand movement and its relationship with upright position in children with hemiplegic spastic cerebral palsy and in typically developing children

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Silvia L. Pavão

2015-02-01

Full Text Available OBJECTIVE: The purpose of this study was to compare postural control in typically developing (TD children and children with cerebral palsy (CP during the sit-to-stand (STS movement and to assess the relationship between static (during static standing position and dynamic postural control (during STS movement in both groups. METHOD: The center of pressure (CoP behavior of 23 TD children and 6 children with spastic hemiplegic CP (Gross Motor Function Classification System [GMFCS] I and II was assessed during STS movement performance and during static standing conditions with the use of a force plate. The data obtained from the force plate were used to calculate CoP variables: anteroposterior (AP and mediolateral (ML amplitudes of CoP displacement and the area and velocity of CoP oscillation. RESULTS: According to the Mann-Whitney test, children with CP exhibited higher CoP values in all of the analyzed variables during the beginning of STS movement. Pearson's correlation verified a positive correlation between the CoP variables during both static conditions and the performance of STS movement. CONCLUSIONS: Children with spastic hemiplegic CP present major postural oscillations during the beginning of STS movement compared with typical children. Moreover, the observed relationship between postural control in static and dynamic conditions reveals the importance of body control in the static position for the performance of functional activities that put the body in motion, such as STS movement.

A comparative study of the effects of trunk exercise program in aquatic and land-based therapy on gait in hemiplegic stroke patients.

Science.gov (United States)

Park, Byoung-Sun; Noh, Ji-Woong; Kim, Mee-Young; Lee, Lim-Kyu; Yang, Seung-Min; Lee, Won-Deok; Shin, Yong-Sub; Kim, Ju-Hyun; Lee, Jeong-Uk; Kwak, Taek-Yong; Lee, Tae-Hyun; Park, Jaehong; Kim, Junghwan

2016-06-01

[Purpose] The purpose of this study was to compare the effects of aquatic and land-based trunk exercise program on gait in stroke patients. [Subjects and Methods] The subjects were 28 hemiplegic stroke patients (20 males, 8 females). The subjects performed a trunk exercise program for a total of four weeks. [Results] Walking speed and cycle, stance phase and stride length of the affected side, and the symmetry index of the stance phase significantly improved after the aquatic and land-based trunk exercise program. [Conclusion] These results suggest that the aquatic and land-based trunk exercise program may help improve gait performance ability after stroke.

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.

Science.gov (United States)

Nishigaki, Satsuki; Hamazaki, Takashi; Fujita, Keinosuke; Morikawa, Shuntaro; Tajima, Toshihiro; Shintaku, Haruo

2016-12-01

Hemizygous mutations in the immunoglobulin superfamily member 1 (IGSF1) gene have been demonstrated to cause congenital central hypothyroidism in males. This study reports a family with a novel mutation in the IGSF1 gene located on the long arm of the X chromosome. A two-month-old boy was diagnosed with central hypothyroidism because of prolonged jaundice. A thyrotropin-releasing hormone (TRH) stimulation test indicated dysfunction in both the hypothalamus and the pituitary gland, and prompted the IGSF1 gene to be analyzed. The patient had a novel nonsense variant, c.2713C>T (p.Q905X), in exon 14 of the IGSF1 gene. Studies of the family revealed that the patient's sister and mother were heterozygous carriers of the IGSF1 mutation. The patient's maternal uncle carried the same mutation as the proband but had no overt symptoms. The mother and uncle started levothyroxine supplementation because of subclinical hypothyroidism. A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity.

Interrater reliability of the Melbourne Assessment of Unilateral Upper Limb Function for children with hemiplegic cerebral palsy.

LENUS (Irish Health Repository)

Spirtos, Michelle

2012-02-01

OBJECTIVE: We examined the interrater reliability of the Melbourne Assessment of Unilateral Upper Limb Function. METHOD: Three occupational therapists independently scored 34 videotaped assessments of children with hemiplegic cerebral palsy aged 6 yr, 1 mo, to 14 yr, 5 mo. Intraclass correlation coefficients (ICCs) at a 95% confidence interval were calculated for total scores, category scores, and item scores. RESULTS: The correlation between raters\\' total scores was high (ICC = .961). The highest correlation for test components between raters was found for fluency (ICC = .902), followed by range of movement (ICC = .866), and the lowest correlation was found for quality of movement (ICC = .683). The ICCs for individual test item scores varied and ranged from .368 to .899. CONCLUSION: This study demonstrated high interrater reliability for total scores, with scoring of some individual components and items requiring further consideration from both a clinical and a research perspective.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Science.gov (United States)

Hsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.; Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; de Oliveira, João R. M.; Sobrido, María-Jesús

2014-01-01

Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient’s disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation. PMID:23334463

Effect of prolotherapy on hemiplegic shoulder pain due to rotator cuff tendinopathy: a pilot study

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Serdar Kesikburun

2017-03-01

Full Text Available Purpose: The aim of this study was to investigate the effect of prolotherapy on pain and shoulder range of motion in stroke patients with hemiplegic shoulder pain due to rotator cuff tendinopathy. Material and Methods: The data of 10 patients (mean age, 64.2+/-11.6 years who had a history stroke of more than six months and underwent prolotherapy treatment were collected retrospectively. The treatment included 3 sessions of dextrose pr olotherapy injections applied to rotator cuff tendon. Visual analogue scale pain scores and shoulder range of motions measured at baseline and two weeks later after end of the treatment were assessed. Results: Visual analogue scale shoulder pain scores of the patients decreased from 8.2+/-1.1 at baseline to 4.8+/-1.9 after prolotherapy The degrees of shoulder flexion and abduction increased significantly after the treatment. Conclusion: Preliminary results in this pilot study suggested the beneficial effect of proloterapi in the treatmentof hemiplegicshoulderpain. [Cukurova Med J 2017; 42(1.000: 13-18

A novel MKRN3 missense mutation causing familial precocious puberty.

Science.gov (United States)

de Vries, L; Gat-Yablonski, G; Dror, N; Singer, A; Phillip, M

2014-12-01

Central precocious puberty may be familial in about a quarter of the idiopathic cases. However, little is known about the genetic causes responsible for the disorder. In this report we describe a family with central precocious puberty associated with a mutation in the makorin RING-finger protein 3 (MKRN3) gene. A novel missense mutation (p.H420Q) in the imprinted MKRN3 gene was identified in the four affected siblings, in their unaffected father and in his affected mother. An in silico mutant MKRN3 model predicts that the mutation p.H420Q leads to reduced zinc binding and, subsequently, impaired RNA binding. These findings support the fundamental role of the MKRN3 protein in determining pubertal timing. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Science.gov (United States)

Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L; Schorderet, Daniel F

2014-08-01

Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations in ALDH1A3 occurred in six families. Based on this series, we estimate that mutations in ALDH1A3 represent a major cause of A/M in consanguineous families, and may be responsible for approximately 10% of the cases. Screening of this gene should be performed in a first line of investigation, together with SOX2. © 2014 WILEY PERIODICALS, INC.

Muscle Recruitment and Coordination following Constraint-Induced Movement Therapy with Electrical Stimulation on Children with Hemiplegic Cerebral Palsy: A Randomized Controlled Trial.

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Kaishou Xu

Full Text Available To investigate changes of muscle recruitment and coordination following constraint-induced movement therapy, constraint-induced movement therapy plus electrical stimulation, and traditional occupational therapy in treating hand dysfunction.In a randomized, single-blind, controlled trial, children with hemiplegic cerebral palsy were randomly assigned to receive constraint-induced movement therapy (n = 22, constraint-induced movement therapy plus electrical stimulation (n = 23, or traditional occupational therapy (n = 23. Three groups received a 2-week hospital-based intervention and a 6-month home-based exercise program following hospital-based intervention. Constraint-induced movement therapy involved intensive functional training of the involved hand during which the uninvolved hand was constrained. Electrical stimulation was applied on wrist extensors of the involved hand. Traditional occupational therapy involved functional unimanual and bimanual training. All children underwent clinical assessments and surface electromyography (EMG at baseline, 2 weeks, 3 and 6 months after treatment. Surface myoelectric signals were integrated EMG, root mean square and cocontraction ratio. Clinical measures were grip strength and upper extremity functional test.Constraint-induced movement therapy plus electrical stimulation group showed both a greater rate of improvement in integrated EMG of the involved wrist extensors and cocontraction ratio compared to the other two groups at 3 and 6 months, as well as improving in root mean square of the involved wrist extensors than traditional occupational therapy group (p<0.05. Positive correlations were found between both upper extremity functional test scores and integrated EMG of the involved wrist as well as grip strength and integrated EMG of the involved wrist extensors (p<0.05.Constraint-induced movement therapy plus electrical stimulation is likely to produce the best outcome in improving muscle recruitment

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Science.gov (United States)

Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno; Annerén, Göran; Bondeson, Marie-Louise

2014-03-01

Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present. © 2013 Wiley Periodicals, Inc.

Na+,K+ pumpen vedbliver at overraske

DEFF Research Database (Denmark)

Vilsen, Bente

2008-01-01

This article provides an overview of news about the Na+,K+ pump, an indispensable enzyme whose protein structure has been described in a recent article in Nature, 50 years after its discovery. In combination with mutational analysis, the structure reveals the binding pocket for the K+ ions...... and the regulation of Na+ transport by a strategically located C-terminus of the protein. Focus is also on the pathophysiology of two neurological disorders, familial hemiplegic migraine and rapid-onset dystonia-parkinsonism, recently shown to be caused by mutations in the Na+,K+-ATPase. Udgivelsesdato: may 19...

Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.

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Tanakaya, Kohji; Yamaguchi, Tatsuro; Ishikawa, Hideki; Hinoi, Takao; Furukawa, Yoichi; Hirata, Keiji; Saida, Yoshihisa; Shimokawa, Mototsugu; Arai, Masami; Matsubara, Nagahide; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

2016-04-01

To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. Among 98 cancer deaths of first-degree relatives of unknown mutation status, 53%, 19%, 13% (among females), 7% (among females) and 5% were due to colorectal, gastric, uterine, ovarian, and hepatobiliary cancer, respectively. The proportion of deaths from extra-colonic cancer was significantly higher in families with MSH2 mutation than in those with MLH1 mutation (p=0.003). In addition to colonic and uterine cancer, management and surveillance targeting gastric, ovarian and hepatobiliary cancer are considered important for Japanese families with LS. Extra-colonic cancer in families with MSH2 mutation might require for more intensive surveillance. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

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Gomez-Ospina, Natalia; Potter, Carol J.; Xiao, Rui; Manickam, Kandamurugu; Kim, Mi-Sun; Kim, Kang Ho; Shneider, Benjamin L.; Picarsic, Jennifer L.; Jacobson, Theodora A.; Zhang, Jing; He, Weimin; Liu, Pengfei; Knisely, A. S.; Finegold, Milton J.; Muzny, Donna M.; Boerwinkle, Eric; Lupski, James R.; Plon, Sharon E.; Gibbs, Richard A.; Eng, Christine M.; Yang, Yaping; Washington, Gabriel C.; Porteus, Matthew H.; Berquist, William E.; Kambham, Neeraja; Singh, Ravinder J.; Xia, Fan; Enns, Gregory M.; Moore, David D.

2016-01-01

Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein and undetectable liver bile salt export pump (ABCB11) expression. Our findings demonstrate a pivotal function for FXR in bile acid homeostasis and liver protection. PMID:26888176

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

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Lalwani, A K; Attaie, A; Randolph, F T; Deshmukh, D; Wang, C; Mhatre, A; Wilcox, E

1998-12-04

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

An evaluation of the hemiplegic subject based on the Bobath approach. Part III. A validation study.

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Arsenault, A B; Dutil, E; Lambert, J; Corriveau, H; Guarna, F; Drouin, G

1988-01-01

Sixty-two hemiplegic subjects were treated with the Bobath approach for a period of three months. During this time they were evaluated on three occasions. The testing battery consisted of a Bobath evaluation, the Brunnstrom scale, the Fugl-Meyer test, the Upper Extremity Functional Test (UEFT) and the Present Pain Intensity (PPI) of the McGill pain questionnaire. A Friedman analysis of variance showed that, except for pain, all the protocols used disclosed significant progress (p less than 0.001) over time in terms of motor recovery. Except for pain, the results of the Bobath evaluation were significantly correlated (Spearman's Rho, p less than 0.001) with the results of the other testing procedures. It is concluded that the new Bobath evaluation proposed in a previous paper is as sensitive in depicting progress in motor recovery over time as are the other testing procedures used. Furthermore, this new evaluation seems to be measuring similar properties to the other tests. However, pain (PPI) appears not to be an important dependent variable.

Recovery of atrophic leg muscles in the hemiplegics due to cerebrovascular accidents. Computed tomographic study

Energy Technology Data Exchange (ETDEWEB)

Odajima, Natsu; Ishiai, Sumio; Okiyama, Ryouichi; Furukawa, Tetsuo; Tsukagoshi, Hiroshi.

1988-02-01

Thirty-five patients with hemiplegia due to cerebrovascular accidents were studied with regared to the muscle wastings before and after rehabilitation training. Hemiplegics were composed of 12 improved and 23 non-improved patients. The CT scan was carried out at the midportion of the thigh and largest-diameter section of the calf. Muscle size of each cross-sectional area was measured on CT image and the increase of size (..delta..S) in each muscle after training was calculated. The ..delta..S of quadriceps femoris was correlated with that of whole cross-section of the thigh. The gracilis in non-affected side was not correlated with that of whole muscles. In both legs, there was an increase in leg muscle size after training. These changes were nost marked in the non-affected side of the improved patients. After training the difference between the two limbs remained unchanged. Recovery of muscle wasting in both legs was seen first in the quadriceps in thigh and flexors in calf. Gracilis was relatively unchanged in comparison with other muscles. Remarkable increase of muscle size in non-affected side was worthwhile to note.

Deaths from external causes in Cuiabá, 0 a 24 years: Profile of victims and families according to intentionality.

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Martins, Christine Baccarat de Godoy; Jorge, Maria Helena Prado de Mello

2013-06-01

In view of the importance of knowing the circumstances associated with external causes (accidents and violence), this study analyzes the profile of the victims and their families as to the intentionality of the event (intentional or accidental). Cross-sectional study, which population comprise children, adolescents, and young people (age 0 to 24) who lived in Cuiabá, MT, and died from external causes in 2009. The data, processed by the Epi-Info software, were taken from the Declarations of Death and interviews with the families of the victims. The nonparametric chi-square test showed statistically significant differences between accidental and intentional deaths by sex and the type of accident or violence, the occurrence of the previous event external cause, parental education, family type, income, responsible for supporting the house, mother's age and caregiver. Among the victims, male participation (88.7 %) stands out compared to female (11.3 %). 50.0% of the deaths of females were accidental and 50.0% intentional; 68.2% of the deaths of males were intentional, 29.1% accidental and 2.7% from undetermined intent. Among the intentional deaths, 72.5% of the victims had already suffered violence. As the degree of instruction of the parents increases, intentional deaths decrease. The proportion of reconstituted/fragmented families is higher for fatal accidents. Intentional causes increase as family income decreases and the age of the parents increases. The agglomeration of people in the homes is higher for intentional deaths. Analizing the profiles of families and victims as to the intentionality of the event allows directing local prevention and control policies.

A FRMD7 variant in a Japanese family causes congenital nystagmus.

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Kohmoto, Tomohiro; Okamoto, Nana; Satomura, Shigeko; Naruto, Takuya; Komori, Takahide; Hashimoto, Toshiaki; Imoto, Issei

2015-01-01

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.

Effect of Intra-articular Hyaluronic Acid Injection on Hemiplegic Shoulder Pain After Stroke.

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Jang, Myung Hun; Lee, Chang-Hyung; Shin, Yong-Il; Kim, Soo-Yeon; Huh, Sung Chul

2016-10-01

To evaluate the efficacy of intra-articular hyaluronic acid (IAHA) injection for hemiplegic shoulder pain (HSP) after stroke. Thirty-one patients with HSP and limited range of motion (ROM) without spasticity of upper extremity were recruited. All subjects were randomly allocated to group A (n=15) for three weekly IAHA injection or group B (n=16) for a single intra-articular steroid (IAS) injection. All injections were administered by an expert physician until the 8th week using a posterior ultrasonography-guided approach. Shoulder joint pain was measured using the Wong-Baker Scale (WBS), while passive ROM was measured in the supine position by an expert physician. There were no significant intergroup differences in WBS or ROM at the 8th week. Improvements in forward flexion and external rotation were observed from the 4th week in the IAHA group and the 8th week in the IAS group. Subjects experienced a statistically significant improvement in pain from the 1st week in the IAS and from the 8th week in IAHA group, respectively. IAHA seems to have a less potent ability to reduce movement pain compared to steroid in the early period. However, there was no statistically significant intergroup difference in WBS and ROM improvements at the 8th week. IAHA might be a good alternative to steroid for managing HSP when the use of steroid is limited.

Kinematic features of rear-foot motion using anterior and posterior ankle-foot orthoses in stroke patients with hemiplegic gait.

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Chen, Chih-Chi; Hong, Wei-Hsien; Wang, Chin-Man; Chen, Chih-Kuang; Wu, Katie Pei-Hsuan; Kang, Chao-Fu; Tang, Simon F

2010-12-01

To evaluate the kinematic features of rear-foot motion during gait in hemiplegic stroke patients, using anterior ankle-foot orthoses (AFOs), posterior AFOs, and no orthotic assistance. Crossover design with randomization for the interventions. A rehabilitation center for adults with neurologic disorders. Patients with hemiplegia due to stroke (n=14) and able-bodied subjects (n=11). Subjects with hemiplegia were measured walking under 3 conditions with randomized sequences: (1) with an anterior AFO, (2) with a posterior AFO, and (3) without an AFO. Control subjects were measured walking without an AFO to provide a normative reference. Rear-foot kinematic change in the sagittal, coronal, and transverse planes. In the sagittal plane, compared with walking with an anterior AFO or without an AFO, the posterior AFO significantly decreased plantar flexion to neutral at initial heel contact (P=.001) and the swing phase (PRehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients.

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Sindou, Marc; Georgoulis, George

2016-01-01

Focal dystonia in hemiplegic upper limbs is poorly responsive to medications or classical neurosurgical treatments. Only repeated botulinum toxin injections show efficacy, but in most severe cases effects are transient. Cervical DREZ lesioning, which has proven efficacious in hyperspasticity when done deeply (3-5 mm) in the dorsal horn, may have favorable effects on the dystonic component when performed down to, and including, the base of the ventral horn (5-6 mm in depth). Three patients underwent deep cervical microsurgical DREZotomy (MDT) for focal dystonia in the upper limb. Hypertonia was reduced, and sustained dystonic postures were suppressed. Residual motor function (hidden behind hypertonia) came to the surface. Cervical MDT may be a useful armamentarium for treating refractory focal dystonia in the upper limb. © 2016 S. Karger AG, Basel.

Understanding the causes and consequences of work-family conflict: an exploratory study of Nigerian employees

OpenAIRE

Adisa, Toyin Ajibade; Osabutey, Ellis L. C.; Gbadamosi, Gbolahan

2016-01-01

Purpose - An important theme for a 21st century employee is a desire for work and family balance which is devoid of conflict. Drawing on detailed empirical research, this article examines the multi-faceted causes and consequences of work-family conflict in a non-western context (Nigeria). \\ud \\ud Methodology - The paper uses qualitative data gleaned from the semi-structured interviews of 88 employees (44 university lecturers and 44 medical doctors) in cities in the six geo-political zones of ...

A rare cause of hypercalcemia presenting with high parathormone levels: Familial hypocalciuric hypercalcemia

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Okan Bakiner

2013-08-01

Full Text Available Familial Hypocalciuric Hypercalcemia is a generally benign disorder caused by heterozygous inactivating mutations in the Calcium-Sensing-Receptor gene resulting in altered calcium metabolism. It should be considered in differential diagnosis of primary hyperparathyroidism. Our case whom was diagnosed as toxic nodular goitre and primary hyperparathyroidism and suggested surgical treatment in another clinical center was evaluated in our out-patient clinic. Furosemid treatment which may affect calcium metabolism was stopped and medical therapy for hyperthyroidism was given. During follow-up the patient was considered as familial hypocalciuric hypercalcemia because of mild hypercalcemia, borderline elevated parathormone levels and significantly decreased daily urinary calcium excretion. The diagnosis was confirmed with the determination of similar laboratory findings for calcium metabolism in her children. In conclusion, evaluating the calcium metabolism after correcting the other factors and keeping familial hypocalciuric hypercalcemia in mind while diagnostic approach to hypercalcemia and differentially diagnosis of primary hyperparathyroidism may prevent unnecessary surgery. [Cukurova Med J 2013; 38(4.000: 765-769

Invesigation of Long-Term Effect of Bobath Approach on a Hemiplegic Child

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Hamid ِDelavand

2010-04-01

Full Text Available Objective: This study was aimed to determine a long-term effect of the Bobath approach (6 years using modern tools on a child with hemiplegia. Materials & Methods: This research is a single case study design and performed on a spastic hemiplegic child. Bobath general assessment was used for evaluating of the quality of the gross motor function and Gross Motor Function Measure tool – 66 was used for quantitative evaluation of the gross motor function. Therapeutic interventions, based on Bobath approach were done for 6 years, in every age level commensurate with their child age once a week. Results: After therapeutic intervention, based on Gross Motor Function Classification System, the child developed from level II to I. At the entrance to the occupational therapy session, based on general assessment, the major problems included hypertonia, muscle stiffness, lack of doing various movements and disassociation movement patterns abnormal in trunk, upper and lower extremities ,and hyper lordosis and scoliosis in her left side. Also she could assume sitting, rolling from left to right and creeping. In the sixth year, she acquired walking, jumping, fast running in out door, hopping and stepping up and down alternatively. In assessing with GMFM- 66, at the beginning of intervention the score was 46/09 and the end of sixth year was 79/99. Conclusion: Bobath treatment programs that planned based on the précis assessment, can prevent of abnormal patterns of movement and as much as possible client abilities to be close to base of natural development.

REBEL WITHOUT A CAUSE: A PSYCHOANALYTIC AND FAMILY-LIFE-CYCLE VIEW OF EMERGING ADULTHOOD IN THE FILM.

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Fulmer, Richard H

2017-07-01

The period during which grown children leave home and establish a new, self-supporting family is called emerging adulthood. This paper uses psychoanalytic concepts and family-life-cycle theory to analyze the film Rebel without a Cause () as a dramatic example of three families going through this phase. Freud's () rescue-motif of the child trying to save an endangered peer to repay his parents for having been nurtured is also characteristic of this period and is considered practice for parenting the next generation. Proximate conflict and support enable two of the film's families to continue the path to reproduce themselves. © 2017 The Psychoanalytic Quarterly, Inc.

[Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family].

Science.gov (United States)

Qi, Yan-hua; Dang, Xiu-hong; Su, Hong; Zhou, Nan; Liang, Ting; Wang, Zheng; Huang, Shang-zhi

2010-02-01

The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD. Corneal button of the proband was obtained from penetrating keratoplasty for the treatment of severe corneal dystrophy. The sections and ultrathin sections of this specimen were examined under light microscope and transmission electron microscope (TEM). Genomic DNA was extracted from leukocytes in peripheral blood from the family members. The coding region of CHST6 was amplified by polymerase chain reaction (PCR). The PCR products were analyzed by direct sequencing and restriction enzyme digestion. Histochemical study revealed positive results of colloidal iron stain. TEM revealed enlargement of smooth endoplasmic reticulum and the presence of intracytoplasmic vacuoles. Two mutations, Q298X Y358H, were identified in exon 3 of CHST6. Three patients were compound heterozygotes of these two mutations. The C892T transversion occurred at codon 298 turned the codon of glutamine to a stop codon; the T1072C transversion occurred at codon 358 caused a missense mutation, tyrosine to histidine. All six unaffected family members were heterozygotes. These two mutations were not detected in any of the 100 control subjects. The novel compound heterozygous mutation results in loss of CHST6 function and causes the occurrence of MCD. This is the first report of this gene mutation.

Short- and long-term effects of synchronized metronome training in children with hemiplegic cerebral palsy: a two case study.

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Johansson, Anna-Maria; Domellöf, Erik; Rönnqvist, Louise

2012-01-01

Children with cerebral palsy (CP) require individualized long-term management to maintain and improve motor functions. The objective of this study was to explore potential effects of synchronized metronome training (SMT) on movement kinematics in two children diagnosed with spastic hemiplegic CP (HCP). Both children underwent 4-weeks/12 sessions of SMT by means of the Interactive Metronome (IM). Optoelectronic registrations of goal-directed uni- and bimanual upper-limb movements were made at three occasions; pre-training, post completed training and at 6-months post completed training. Significant changes in kinematic outcomes following IM training were found for both cases. Findings included smoother and shorter movement trajectories in the bimanual condition, especially for the affected side. In the unimanual condition, Case I also showed increased smoothness of the non-affected side. The observed short- and long-term effects on the spatio-temporal organization of upper-limb movements need to be corroborated and extended by further case-control studies.

Irregular breakfast consumption in adolescence and the family environment: underlying causes by family structure.

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Levin, Kate A; Kirby, Joanna

2012-08-01

Data from the 2002, 2006 and 2010 Scottish Health Behaviour in School-aged Children (HBSC) surveys were analysed using logistic multilevel regression for outcome variable irregular breakfast consumption (IBC). IBC prevalence in Scotland was higher among young people from reconstituted and single parent families, and particularly single father families. Family characteristics, found previously to be associated with breakfast consumption, such as number of siblings, perceived parenting, parental involvement and family affluence, differed by family structure. Family structure inequalities in IBC existed, also after adjustment for year and child's sex, age, grade and ethnicity. Across all family structures, IBC was more prevalent at the older age groups, among those who had difficult communication with their parents, and where household routines were infrequent. Greater number of siblings and lower family affluence were associated with higher odds of IBC in single mother and both parent families, while having a second home was associated with higher odds in reconstituted households. Fair parenting and being close to at least one parent was associated with reduced odds of IBC in single mother households, while being close to all parents was in single father households. In single mother homes, having a working mother was also positively associated with IBC. Family structure differences should be considered when addressing irregular breakfast consumption in adolescence. Copyright © 2012 Elsevier Ltd. All rights reserved.

Resting State and Diffusion Neuroimaging Predictors of Clinical Improvements Following Constraint-Induced Movement Therapy in Children With Hemiplegic Cerebral Palsy.

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Manning, Kathryn Y; Fehlings, Darcy; Mesterman, Ronit; Gorter, Jan Willem; Switzer, Lauren; Campbell, Craig; Menon, Ravi S

2015-10-01

The aim was to identify neuroimaging predictors of clinical improvements following constraint-induced movement therapy. Resting state functional magnetic resonance and diffusion tensor imaging data was acquired in 7 children with hemiplegic cerebral palsy. Clinical and magnetic resonance imaging (MRI) data were acquired at baseline and 1 month later following a 3-week constraint therapy regimen. A more negative baseline laterality index characterizing an atypical unilateral sensorimotor resting state network significantly correlated with an improvement in the Canadian Occupational Performance Measure score (r = -0.81, P = .03). A more unilateral network with decreased activity in the affected hemisphere was associated with greater improvements in clinical scores. Higher mean diffusivity in the posterior limb of the internal capsule of the affect tract correlated significantly with improvements in the Jebsen-Taylor score (r = -0.83, P = .02). Children with more compromised networks and tracts improved the most following constraint therapy. © The Author(s) 2015.

Genetics of migraine and related syndromes

NARCIS (Netherlands)

Stam, Anine Henrike

2014-01-01

In this dissertation clinical genetic investigations on migraine, related syndromes and comorbid conditions are described. The first migraine syndrome studied is Familial Hemiplegic Migraine (FHM), a monogenic migraine variant. The clinical spectrum of FHM1-3 and the relation with closely related

Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

DEFF Research Database (Denmark)

Fager Ferrari, Marcus; Leinoe, Eva; Rossing, Maria

2018-01-01

Familial hemophagocytic lymphohistiocytosis (FHL) is caused by biallelic variants in genes regulating granule secretion in cytotoxic lymphocytes. In FHL3-5, the affected genes UNC13D, STX11 and STXBP2 have further been shown to regulate the secretion of platelet granules, giving rise to compromised...

Familial hemiplegic migraine type 1 associated with parkinsonism

DEFF Research Database (Denmark)

Bruun, Marie; Hjermind, Lena Elisabeth; Thomsen, Carsten

2015-01-01

parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission...

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

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Hong-Yang Wang

2015-01-01

Full Text Available Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI, including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI. Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI. Methods: To decipher the genetic code of a Chinese family (family 686 with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years. Results: We identified a pathogenic missense mutation, c. 2081G>A (p.G694E, in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL. The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136FNx01 and p.G45E in the GJB2 gene may account for the phenotype shown in this patient. Conclusions: We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

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Evgeny A Glazov

2011-03-01

Full Text Available Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents and two affected children using whole-exome sequencing. The two affected daughters have clinical and radiographic features suggestive of anauxetic dysplasia (OMIM 607095, a rare form of dwarfism caused by mutations of RMRP. However, mutations of RMRP were excluded in this family by direct sequencing. Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia.

Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPas

DEFF Research Database (Denmark)

Poulsen, Hanne; Khandelia, Himanshu; Morth, Jens Preben

2010-01-01

severe neurological diseases. This novel model for ion transport by the Na(+)/K(+)-ATPase is established by electrophysiological studies of C-terminal mutations in familial hemiplegic migraine 2 (FHM2) and is further substantiated by molecular dynamics simulations. A similar ion regulation is likely...

Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase

DEFF Research Database (Denmark)

Poulsen, Hanne; Khandelia, Himanshu; Morth, J Preben

2010-01-01

severe neurological diseases. This novel model for ion transport by the Na(+)/K(+)-ATPase is established by electrophysiological studies of C-terminal mutations in familial hemiplegic migraine 2 (FHM2) and is further substantiated by molecular dynamics simulations. A similar ion regulation is likely...

Exploring genes and pathways involved in migraine

NARCIS (Netherlands)

Eising, E.

2017-01-01

The research in this thesis was aimed at identifying genes and molecular pathways involved in migraine. To this end, two gene expression analyses were performed in brain tissue obtained from transgenic mouse models for familial hemiplegic migraine (FHM), a monogenic subtype of migraine with aura.

Familial microscopic hematuria caused by hypercalciuria and hyperuricosuria.

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Praga, M; Alegre, R; Hernández, E; Morales, E; Domínguez-Gil, B; Carreño, A; Andrés, A

2000-01-01

We report 12 patients belonging to five different families in whom persistent isolated microhematuria was associated with hypercalciuria and/or hyperuricosuria. Four patients had episodes of gross hematuria, three patients had passed renal stones, and a history of nephrolithiasis was obtained in four of the families (80%). Calcium oxalate and uric acid crystals were commonly observed in the urine sediments. Urinary erythrocytes had a normal appearance on phase-microscopic examination. Reduction of calciuria and uricosuria by thiazide diuretics, allopurinol, forced fluid intake, and dietetic measures led to a persistent normalization of urine sediment with complete disappearance of hematuria. Determination of calcium and uric acid urinary excretions should be included in the study of familial hematuria.

The effects of a 12-week program of static upper extremity weight bearing exercises on weight bearing in children with hemiplegic type of cerebral palsy

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P. Jayaraman

2010-01-01

Full Text Available The  major  objective  of  this  study  was  to  quantify  the  effects  of a  12-week  program  of  weight  bearing  exercises  on  weight  borne  through  the hand and grip pressures in children with hemiplegic cerebral palsy. This study also sought to monitor the change in spasticity immediately following weight-bearing  exercises.  A  quasi-experimental,  one  group  pre-test,  post-test  study  was used. Eleven children with hemiplegic type of cerebral palsy from a special school in KwaZulu Natal participated after fully informed written consent. The intervention consisted of a 12-week program of weight bearing. The Tekscan Grip system was used to quantify weight borne through the hand during extended arm prone and quadruped positions and whilst holding a pencil and a tumbler. The modified Ashworth grading of spasticity was used to monitor spasticity. The data was analysed using the random effects GLS model Wald Chi Square test. Significant increases in contact pressure in extended arms prone (p=0,012 and quadruped (p=0,002 and when holding a pencil (p=0,045 was noted post-test compared to pre-test. Significant increases in contact area of the hand was also noted in prone (p=0,000, quadruped (p=0, 03 at assessment 7 and when holding a pencil (p=0,035.  A significant decrease in spasticity during elbow extension (p=0,004, and wrist flexion (p=0,026 and extension (p=0,004 was noted. An overall significant effect of static weight bearing exercises on weight borne through the hands, grip strength and spasticity justifies the use of static weight-bearing in therapy.

An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

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Yi Dai

2017-07-01

Full Text Available Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1 gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles. The proband has a positive autosomal dominant family history with similar clinical manifestations with a trend of genetic anticipation. In order to understand the genetic cause of the disease in this family, target exome capture based next generation sequencing has been done, but no causative variants or possibly pathogenic variants has been identified. However, Multiplex ligand-dependent probe amplification (MLPA showed whole duplication of LMNB1 gene which is co-segregated with the disease phenotype in this family. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.

Mental Models of Cause and Inheritance for Type 2 Diabetes Among Unaffected Individuals Who Have a Positive Family History.

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Daack-Hirsch, Sandra; Shah, Lisa L; Cady, Alyssa D

2018-03-01

Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.

Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

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Rice, Gillian; Newman, William G.; Dean, John; Patrick, Teresa; Parmar, Rekha; Flintoff, Kim; Robins, Peter; Harvey, Scott; Hollis, Thomas; O’Hara, Ann; Herrick, Ariane L.; Bowden, Andrew P.; Perrino, Fred W.; Lindahl, Tomas; Barnes, Deborah E.; Crow, Yanick J.

2007-01-01

TREX1 constitutes the major 3′→5′ DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutières syndrome at the AGS1 locus. Interestingly, Aicardi-Goutières syndrome shows overlap with systemic lupus erythematosus at both clinical and pathological levels. Here, we report a heterozygous TREX1 mutation causing familial chilblain lupus. Additionally, we describe a de novo heterozygous mutation, affecting a critical catalytic residue in TREX1, that results in typical Aicardi-Goutières syndrome. PMID:17357087

Neonatal Stroke Causes Poor Midline Motor Behaviors and Poor Fine and Gross Motor Skills during Early Infancy

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Chen, Chao-Ying; Lo, Warren D.; Heathcock, Jill C.

2013-01-01

Upper extremity movements, midline behaviors, fine, and gross motor skills are frequently impaired in hemiparesis and cerebral palsy. We investigated midline toy exploration and fine and gross motor skills in infants at risk for hemiplegic cerebral palsy. Eight infants with neonatal stroke (NS) and thirteen infants with typical development (TD)…

Effects of Nintendo Wii™ Training on Occupational Performance, Balance, and Daily Living Activities in Children with Spastic Hemiplegic Cerebral Palsy: A Single-Blind and Randomized Trial.

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Atasavun Uysal, Songül; Baltaci, Gül

2016-10-05

This study aimed at assessing how the addition of Nintendo Wii ™ (NW) system to the traditional therapy influences occupational performance, balance, and daily living activities in children with spastic hemiplegic Cerebral Palsy (CP). The present study is a single-blind and randomized trial involving 24 children aged 6-14 years, classified as level I or II on the Gross Motor Function Classification System. The children were allocated into two groups: an intervention and a control group, and their families participated in the study. The activity performance analysis of the children was undertaken by using the Canadian Occupational Performance Measure (COPM), functional balance was measured with the Pediatric Balance Scale (PBS), and activities of daily living were assessed with Pediatric Evaluation of Disability Inventory (PEDI). Twenty-four children with CP were randomly divided into two groups: intervention (n = 12) and control group (n = 12). All children in both groups continued their traditional physiotherapy program twice a week, 45 minutes per session, whereas the participants in the intervention group, additionally, were trained with NW, two other days of the week for 12 weeks, with each session lasting for 30 minutes. Self-care, mobility, PEDI total, PBS, and performance of COPM scores increased in the NW group after intervention. Self-care, mobility, and total PEDI increased in the control group as well. However, there was no statistically significant difference found between the groups, except for PBS (P < 0.05). NW contributed to the implementation of occupational performance, daily living activities, and functional balance. We recommend that NW could be used in the rehabilitation program to engage play-based activities with fun.

Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice

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Jensen, N.; Schroder, H. D.; Hejbol, E. K.

2013-01-01

Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50% of the families...... reported worldwide. Here, we show that knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex, demonstrating that reduced PiT2 expression alone can cause brain calcifications....

Maintained hand function and forearm bone health 14 months after an in-home virtual-reality videogame hand telerehabilitation intervention in an adolescent with hemiplegic cerebral palsy.

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Golomb, Meredith R; Warden, Stuart J; Fess, Elaine; Rabin, Bryan; Yonkman, Janell; Shirley, Bridget; Burdea, Grigore C

2011-03-01

Virtual reality videogames can be used to motivate rehabilitation, and telerehabilitation can be used to improve access to rehabilitation. These uses of technology to improve health outcomes are a burgeoning area of rehabilitation research. So far, there is a lack of reports of long-term outcomes of these types of interventions. The authors report a 15-year-old boy with hemiplegic cerebral palsy and epilepsy because of presumed perinatal stroke who improved his plegic hand function and increased his plegic forearm bone health during a 14-month virtual reality videogame hand telerehabilitation intervention. A total of 14 months after the intervention ended, repeat evaluation demonstrated maintenance of both increased hand function and forearm bone health. The implications of this work for the future of rehabilitation in children with neurological disabilities are discussed in this article.

Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case

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Gomez-Segovia, I; Gallowitsch, H J; Kresnik, E; Kumnig, G; Mikosch, P; Lind, P [Dept.of Nuclear Medicine and Endocrinology, LKH Klagenfurt (Austria)

2002-09-01

Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of

Cushing's Syndrome caused by pigmented adrenocortical micro nodular dysplasia - A familial case

International Nuclear Information System (INIS)

Gomez-Segovia, I.; Gallowitsch, H.J.; Kresnik, E.; Kumnig, G.; Mikosch, P.; Lind, P.

2002-01-01

Introduction: We present a Case of Cushing's syndrome (CS) in a 16 year old male adolescent. Adrenocortical micro nodular dysplasia is a rare cause of CS. It mostly develops in the first two decades of life. In pathogenesis a stimulatory effect of circulating Immunoglobulins on adrenal steroidogenesis has been postulated. Familial cases have been reported in relation to Carney's Syndrome. We report the clinical case at first diagnosis and preoperative follow up of 1 year prior to treatment. The leading symptoms were severe bilateral (fibrotic) gynaecomastia, weight gain and growth retardation, without hypertension,but osteoporosis, secondary hypogonadism and glucose intolerance. Laboratory findings and the results of functional tests were diagnostic for CS. In addition LDH (I-131 Isotopes), CK, Lipoproteins, GPT, Androstendion, Prolactin were elevated. MRI abdomen revealed a slight enlargement of the adrenals, and suspected a bilateral micro nodular dysplasia. Iodo-cholesterol-scan under dexamethason suppression showed a diffuse bilateral Iodo-cholesterol uptake confirming the autonomous production of cortisol bilateral in the adrenals.Whole body bone scan showed a diffuse reduced diphosphonate uptake in the skeleton and the growth plates. The bone mineral density was significantly reduced.Radiologically osteoporosis was overt. The rapid increase of free urinary cortisol excretion/24h within one year of observation led to a total bilateral adrenalectomy. Postoperative 5 year follow up examinations. Documentation of the outcome and recovery of clinical signs,symptoms and laboratory findings, discussion about the most appropriate long-term substitution therapy. Familial anamnesis:affected family member was the father (micro nodular bilateral adrenocortical dysplasia), the aunt (pararenal incidentaloma, histologically lipoma) and a cousin (micro nodular adrenocortical dysplasia). Sequential analysis of the menin gene from the patient was negative.The detection of

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

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Hilgert, N; Kahrizi, K; Dieltjens, N; Bazazzadegan, N; Najmabadi, H; Smith, R J H; Van Camp, G

2009-04-01

Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype. To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss. Mutation analysis of all 90 coding exons of GPR98. Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. We identified a new mutation in GPR98 segregating with USH2C in this family. The mutation is a large deletion g.371657_507673del of exons 84 and 85, presumably leading to a frameshift. A large GPR98 deletion of 136 017 bp segregates with USH2C in an Iranian family. To our knowledge, this is only the second report of a GPR98 mutation, and the first report on male subjects with USH2C and a GPR98 mutation.

Home-based Nintendo Wii training to improve upper-limb function in children ages 7 to 12 with spastic hemiplegic cerebral palsy.

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Kassee, Caroline; Hunt, Carolyn; Holmes, Michael W R; Lloyd, Meghann

2017-05-17

This pilot study compared a Nintendo Wii intervention to single-joint resistance training for the upper limb in children ages 7 to 12 with spastic hemiplegic cerebral palsy (CP). Children were randomized to Wii training (n= 3), or resistance training (n= 3) and trained at home for 6 weeks. Pre, post and 4-week follow-up measures were collected. Outcome measures were the Melbourne Assessment (MA2), and ABILHAND-Kids, and grip strength. Compliance, motivation and feasibility of each intervention was explored using daily logbook responses and questionnaires. Descriptive statistics were used. Three children improved in the MA2, two of which were in the Wii training group. Improvements in the ABILHAND-Kids were minimal for all participants. Grip strength improvements were observed in 3 participants, two of which were in the resistance training group. The Wii training group reported higher compliance and more consistently positive responses to motivation and feasibility questions. Therefore, Wii training may be an effective home-based rehabilitation strategy, and is worth exploring in a larger trial. Implications of Wii training in the context of motivation theory are discussed.

A Comparison of Solo and Multiplayer Active Videogame Play in Children with Unilateral Cerebral Palsy.

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Howcroft, Jennifer; Fehlings, Darcy; Wright, Virginia; Zabjek, Karl; Andrysek, Jan; Biddiss, Elaine

2012-08-01

Active videogames (AVGs) have potential in terms of physical activity and therapy for children with cerebral palsy. However, the effect of social interaction on AVG play has not yet been assessed. The objective of this study is to determine if multiplayer AVG versus solo affects levels of energy expenditure and movement patterns. Fifteen children (9.77 [standard deviation (SD) 1.78] years old) with hemiplegic cerebral palsy (Gross Motor Function Classification System Level I) participated in solo and multiplayer Nintendo(®) "Wii™ Boxing" (Nintendo, Inc., Redmond, WA) AVG play while energy expenditure and punching frequency were monitored. Moderate levels of physical activity were achieved with no significant differences in energy measures during multiplayer and solo play. Dominant arm punching frequency increased during the multiplayer session from 95.75 (SD 37.93) punches/minute to 107.77 (SD 36.99) punches/minute. Conversely, hemiplegic arm punching frequency decreased from 39.05 (SD 29.57) punches/minutes to 30.73 (SD 24.74) punches/minutes during multiplayer game play. Children enjoyed multiplayer more than solo play. Opportunities to play AVGs with friends and family may translate to more frequent participation in this moderate physical activity. Conversely, increased hemiplegic limb use during solo play may have therapeutic advantages. As such, new strategies are recommended to promote use of the hemiplegic hand during multiplayer AVG play and to optimize commercial AVG systems for applications in virtual reality therapy.

A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

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Jing Liu

2016-01-01

Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia

DEFF Research Database (Denmark)

Langsted, Anne; Kamstrup, Pia Rørbœk; Benn, Marianne

2016-01-01

, and that individuals with both high lipoprotein(a) concentrations and clinical familial hypercholesterolaemia have the highest risk of myocardial infarction. METHODS: We did a prospective cohort study that included data from 46 200 individuals from the Copenhagen General Population Study who had lipoprotein...... cholesterol, mean lipoprotein(a) concentrations were 23 mg/dL in individuals unlikely to have familial hypercholesterolaemia, 32 mg/dL in those with possible familial hypercholesterolaemia, and 35 mg/dL in those with probable or definite familial hypercholesterolaemia (ptrend... LDL cholesterol for lipoprotein(a) cholesterol content the corresponding values were 24 mg/dL for individuals unlikely to have familial hypercholesterolaemia, 22 mg/dL for those with possible familial hypercholesterolaemia, and 21 mg/dL for those with probable or definite familial...

Maintained Hand Function and Forearm Bone Health 14 Months After an In-Home Virtual-Reality Videogame Hand Telerehabilitation Intervention in an Adolescent With Hemiplegic Cerebral Palsy

Science.gov (United States)

Golomb, Meredith R.; Warden, Stuart J.; Fess, Elaine; Rabin, Bryan; Yonkman, Janell; Shirley, Bridget; Burdea, Grigore C.

2015-01-01

Virtual reality videogames can be used to motivate rehabilitation, and telerehabilitation can be used to improve access to rehabilitation. These uses of technology to improve health outcomes are a burgeoning area of rehabilitation research. So far, there is a lack of reports of long-term outcomes of these types of interventions. The authors report a 15-year-old boy with hemiplegic cerebral palsy and epilepsy because of presumed perinatal stroke who improved his plegic hand function and increased his plegic forearm bone health during a 14-month virtual reality videogame hand telerehabilitation intervention. A total of 14 months after the intervention ended, repeat evaluation demonstrated maintenance of both increased hand function and forearm bone health. The implications of this work for the future of rehabilitation in children with neurological disabilities are discussed in this article. PMID:21383228

Family and non-family business differences in Estonia

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Maret Kirsipuu

2014-01-01

Full Text Available This paper seeks to identify differences between family enterprises and non-family enterprises. The concepts of entrepreneurship, entrepreneur and enterprise/business are clarified. The paper contains the results of research conducted by the author among family entrepreneurs in 2007–2012 that can be compared to the research results reached by Wahl (2011. This research demonstrates that there are differences between family entrepreneurs and non-family entrepreneurs, which are primarily caused by that family entrepreneurs value first of all their family members, family traditions and only then profit earning.

Upper limb training using Wii Sports Resort for children with hemiplegic cerebral palsy: a randomized, single-blind trial.

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Chiu, Hsiu-Ching; Ada, Louise; Lee, Hsin-Min

2014-10-01

To investigate whether Wii Sports Resort training is effective and if any benefits are maintained. Randomized, single-blind trial. Sixty-two hemiplegic children with cerebral palsy (6-13 years). Experimental group undertook six weeks of home-based Wii Sports Resort training plus usual therapy, while the control group received usual therapy. Outcomes were coordination, strength, hand function, and carers' perception of hand function, measured at baseline, six, and 12 weeks by a blinded assessor. There was a trend of mean difference (MD) for the experimental group to have more grip strength by six (MD 4.0 N, 95% confidence interval (CI) -0.8 to 8.8, p = 0.10) and 12 (MD 4.1 N, 95% CI -2.1 to 10.3, p = 0.19) weeks, and to have a higher quantity of hand function according to carers' perception by six (MD 4.5 N, 95% CI -0.7 to 9.7, p = 0.09) and strengthened by 12 (MD 6.4, 95% CI 0.6 to 12.3, p = 0.03) weeks than the control group. There was no difference between groups in coordination and hand function by six or 12 weeks. Wii training did not improve coordination, strength, or hand function. Beyond the intervention, carers perceived that the children used their hands more. © The Author(s) 2014.

Comparison of staff and family perceptions of causes of noise pollution in the Pediatric Intensive Care Unit and suggested intervention strategies

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Harsheen Kaur

2016-01-01

Full Text Available Noise and excessive, unwanted sound in the Pediatric Intensive Care Unit (PICU is common and has a major impact on patients′ sleep and recovery. Previous research has focused mostly on absolute noise levels or included only staff as respondents to acknowledge the causes of noise and to plan for its reduction. Thus far, the suggested interventions have not ameliorated noise, and it continues to serve as a barrier to recovery. In addition to surveying PICU providers through internet-based software, patients′ families were evaluated through in-person interviews utilizing a pretested instrument over 3 months. Families of patients admitted for more than 24 h were considered eligible for evaluation. Participants were asked to rank causes of noise from 1 to 8, with eight being highest, and identified potential interventions as effective or ineffective. In total, 50 families from 251 admissions and 65 staff completed the survey. Medical alarms were rated highest (mean ± standard deviation [SD], 4.9 ± 2.1 [2.8-7.0], followed by noise from medical equipment (mean ± SD, 4.7 ± 2.1 [2.5-6.8]. This response was consistent among PICU providers and families. Suggested interventions to reduce noise included keeping a patient′s room door closed, considered effective by 93% of respondents (98% of staff; 88% of families, and designated quiet times, considered effective by 82% (80% of staff; 84% of families. Keeping the patient′s door closed was the most effective strategy among survey respondents. Most families and staff considered medical alarms an important contributor to noise level. Because decreasing the volume of alarms such that it cannot be heard is inappropriate, alternative strategies to alert staff of changes in vital signs should be explored.

Comparison of staff and family perceptions of causes of noise pollution in the Pediatric Intensive Care Unit and suggested intervention strategies.

Science.gov (United States)

Kaur, Harsheen; Rohlik, Gina M; Nemergut, Michael E; Tripathi, Sandeep

2016-01-01

Noise and excessive, unwanted sound in the Pediatric Intensive Care Unit (PICU) is common and has a major impact on patients' sleep and recovery. Previous research has focused mostly on absolute noise levels or included only staff as respondents to acknowledge the causes of noise and to plan for its reduction. Thus far, the suggested interventions have not ameliorated noise, and it continues to serve as a barrier to recovery. In addition to surveying PICU providers through internet-based software, patients' families were evaluated through in-person interviews utilizing a pretested instrument over 3 months. Families of patients admitted for more than 24 h were considered eligible for evaluation. Participants were asked to rank causes of noise from 1 to 8, with eight being highest, and identified potential interventions as effective or ineffective. In total, 50 families from 251 admissions and 65 staff completed the survey. Medical alarms were rated highest (mean ± standard deviation [SD], 4.9 ± 2.1 [2.8-7.0]), followed by noise from medical equipment (mean ± SD, 4.7 ± 2.1 [2.5-6.8]). This response was consistent among PICU providers and families. Suggested interventions to reduce noise included keeping a patient's room door closed, considered effective by 93% of respondents (98% of staff; 88% of families), and designated quiet times, considered effective by 82% (80% of staff; 84% of families). Keeping the patient's door closed was the most effective strategy among survey respondents. Most families and staff considered medical alarms an important contributor to noise level. Because decreasing the volume of alarms such that it cannot be heard is inappropriate, alternative strategies to alert staff of changes in vital signs should be explored.

Naxos disease in an Arab family is not caused by the Pk2157del2 mutation; evidance for exclusion of the plakoglobin gene

International Nuclear Information System (INIS)

Stuhmann, M.; El-Harith, A.; Bukhari, Iqbal A.

2004-01-01

Nax os disease is a rare hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy. This study aims to determine whether Naxos disease in a Saudi Arab family is caused by the Pk2157del2 mutation that was identified in Greek families from Naxos Island where the disease had originally been described. This study was undertaken at King Fahad Hospital of the University, Al-Khobar, and the Medical University of Hannover, in the spring of 2003. Naxos disease has been encountered in a 2-year-old girl and her 30-year-old aunt of a Saudi Arab family. Deoxyribonucleic acid samples of this family were analyzed by polymerase chain-reaction (PCR) amplification of the respective region of the plakoglobin gene, and direct nucleotide sequencing of the PCR-products. Segregation analysis was performed employing the newly detected IVS11+22G/A polymorphism. Molecular genetic analysis of the DNA sample of the child diagnosed with Naxos disease showed absence of the Pk2157del2 mutation. In addition, the segregation analysis revealed heterozygosity for IVS11+22G/A in the affected girl. Absence of the Pk2157del2 frameshift in the affected child proved that Naxos disease in this Saudi Arab family is not caused by the same mutation that was identified in the Greek families. Furthermore, heterozygosity for the IVS11+22G/A polymorphism provided evidence for exclusion of the plakoglobin gene in this consanguineous family. (author)

Attributed causes for work-family conflict: emotional and behavioral outcomes

NARCIS (Netherlands)

Ilies, R.; de Pater, I.E.; Lim, S.; Binnewies, C.

2012-01-01

Work-family conflict may give rise to different emotional reactions, depending on the causal attributions people make for the experience of work-family conflict. These emotional reactions, in turn, may result in specific behavioral reactions, that may either be adaptive or maladaptive in nature. In

ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT

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Zh. Sh. Bagomedova

2016-01-01

Full Text Available Ornithine transcarbamylase deficiency (type II hyperammonemia – X-linked metabolic disorder of the urea cycle, caused by mutations of the gene encoding ornithine transcarbamylase (OTC. Changes to the nervous system caused by degenerative processes in the gray and white matter of the cerebral hemispheres. The authors describe 1-year-old boy with ornithine transcarbamylase deficiency as a clinical example, with the onset of the disease in the first year of life, with refusal of food, vomiting, weakness and tiredness progressing to lethargy and unconsciousness, convulsive seizures, refusal from meat in the interictal period, delayed of psychomotor development. The child was admitted to the children’s intensive care unit in serious condition, unconscious with severe neurological symptoms. The clinical picture, the results of instrumental and laboratory examination and the presence of family history were the basis for the assumption of the hereditary origin of the disease. Genetic further examination was planned. In the context of children’s intensive care unit, the patient was undergoing of intensive therapy, which had no effect. Death occurred on the 5th day of hospitalization. To verify the diagnosis post-mortem autopsy was conducted, based on which was installed the immediate cause of death. In confirming the diagnosis is considered as tandem mass spectrometry, and DNA diagnostics.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

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Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

2017-01-01

Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease. Copyright © 2016 Elsevier B.V. All rights reserved.

Genetic Forms of Epilepsies and other Paroxysmal Disorders

Science.gov (United States)

Olson, Heather E.; Poduri, Annapurna; Pearl, Phillip L.

2016-01-01

Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including Tuberous Sclerosis Complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of singe gene causes or susceptibility factors associated with several epilepsy syndromes, including the early onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look towards the future of epilepsy genetics. PMID:25192505

Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene

DEFF Research Database (Denmark)

Toustrup, Lise Bols; Zhou, Yan; Kvistgaard, Helene

2017-01-01

Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is caused by variants in the arginine vasopressin (AVP) gene. Here we report the generation of induced pluripotent stem cells (iPSCs) from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using...

A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

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Uzak, Asli Subasioglu; Tokgoz, Bulent; Dundar, Munis; Tekin, Mustafa

2013-03-01

Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and are caused by mutations in the COL4A3 or COL4A4 genes, encoding type IV collagen. Clinical data in a large consanguineous family with four affected members were reviewed, and genomic DNA was extracted. For mapping, 15 microsatellite markers flanking COL4A3, COL4A4, and COL4A5 in 16 family members were typed. For mutation screening, all coding exons of COL4A3 were polymerase chain reaction- amplified and Sanger-sequenced from genomic DNA. The disease locus was mapped to chromosome 2q36.3, where COL4A3 and COL4A4 reside. Sanger sequencing revealed a novel mis-sense mutation (c.2T>C; p.M1T) in exon 1 of COL4A3. The identified nucleotide change was not found in 100 healthy ethnicity-matched controls via Sanger sequencing. We present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease. Although the relationship between the various genotypes and phenotypes in AS has not been fully elucidated, detailed clinical and molecular analyses are helpful for providing data to be used in genetic counseling. It is important to identify new mutations to clarify their clinical importance, to assess the prognosis of the disease, and to avoid renal biopsy for final diagnosis.

Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer.

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Panganiban-Corales, Avegeille T; Medina, Manuel F

2011-10-31

Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES) based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70) and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Many Filipino families of children with cancer have inadequate resources, especially economic; and are moderately or severely

Family resources study: part 1: family resources, family function and caregiver strain in childhood cancer

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Panganiban-Corales Avegeille T

2011-10-01

Full Text Available Abstract Background Severe illness can disrupt family life, cause family dysfunction, strain resources, and cause caregiver burden. The family's ability to cope with crises depends on their resources. This study sought to assess families of children with cancer in terms of family function-dysfunction, family caregiver strain and the adequacy of family resources using a new family resources assessment instrument. Methods This is a cross-sectional study involving 90 Filipino family caregivers of children undergoing cancer treatment. This used a self-administered questionnaire composed of a new 12-item family resources questionnaire (SCREEM-RES based on the SCREEM method of analysis, Family APGAR to assess family function-dysfunction; and Modified Caregiver Strain Index to assess strain in caring for the patient. Results More than half of families were either moderately or severely dysfunctional. Close to half of caregivers were either predisposed to strain or experienced severe strain, majority disclosed that their families have inadequate economic resources; many also report inaccessibility to medical help in the community and insufficient educational resources to understand and care for their patients. Resources most often reported as adequate were: family's faith and religion; help from within the family and from health providers. SCREEM-RES showed to be reliable with Cronbach's alpha of 0.80. There is good inter-item correlation between items in each domain: 0.24-0.70. Internal consistency reliability for each domain was also good: 0.40-0.92. Using 2-point scoring system, Cronbach's alpha were slightly lower: full scale (0.70 and for each domain 0.26-.82. Results showed evidence of association between family resources and family function based on the family APGAR but none between family resources and caregiver strain and between family function and caregiver strain. Conclusion Many Filipino families of children with cancer have inadequate

Exome sequencing reveals VCP mutations as a cause of familial ALS

OpenAIRE

Johnson, Janel O.; Mandrioli, Jessica; Benatar, Michael; Abramzon, Yevgeniya; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Gibbs, J Raphael; Brunetti, Maura; Gronka, Susan; Wuu, Joanne; Ding, Jinhui; McCluskey, Leo; Martinez-Lage, Maria; Falcone, Dana; Hernandez, Dena G.

2010-01-01

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget’s disease and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mut...

Jamaican families.

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Miner, Dianne Cooney

2003-01-01

The study of the family in the Caribbean originated with European scholars who assumed the universality of the patriarchal nuclear family and the primacy of this structure to the healthy functioning of society. Matrifocal Caribbean families thus were seen as chaotic and disorganized and inadequate to perform the essential tasks of the social system. This article provides a more current discussion of the Jamaican family. It argues that its structure is the result of the agency and adaptation of its members and not the root cause of the increasing marginalization of peoples in the developing world. The article focuses on families living in poverty and how the family structure supports essential family functions, adaptations, and survival.

Modified constraint-induced movement therapy or bimanual occupational therapy following injection of Botulinum toxin-A to improve bimanual performance in young children with hemiplegic cerebral palsy: a randomised controlled trial methods paper

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Imms Christine

2010-07-01

Full Text Available Abstract Background Use of Botulinum toxin-A (BoNT-A for treatment of upper limb spasticity in children with cerebral palsy has become routine clinical practice in many paediatric treatment centres worldwide. There is now high-level evidence that upper limb BoNT-A injection, in combination with occupational therapy, improves outcomes in children with cerebral palsy at both the body function/structure and activity level domains of the International Classification of Functioning, Disability and Health. Investigation is now required to establish what amount and specific type of occupational therapy will further enhance functional outcomes and prolong the beneficial effects of BoNT-A. Methods/Design A randomised, controlled, evaluator blinded, prospective parallel-group trial. Eligible participants were children aged 18 months to 6 years, diagnosed with spastic hemiplegic cerebral palsy and who were able to demonstrate selective motor control of the affected upper limb. Both groups received upper limb injections of BoNT-A. Children were randomised to either the modified constraint-induced movement therapy group (experimental or bimanual occupational therapy group (control. Outcome assessments were undertaken at pre-injection and 1, 3 and 6 months following injection of BoNT-A. The primary outcome measure was the Assisting Hand Assessment. Secondary outcomes included: the Quality of Upper Extremity Skills Test; Pediatric Evaluation of Disability Inventory; Canadian Occupational Performance Measure; Goal Attainment Scaling; Pediatric Motor Activity Log; modified Ashworth Scale and; the modified Tardieu Scale. Discussion The aim of this paper is to describe the methodology of a randomised controlled trial comparing the effects of modified constraint-induced movement therapy (a uni-manual therapy versus bimanual occupational therapy (a bimanual therapy on improving bimanual upper limb performance of children with hemiplegic cerebral palsy following

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis

DEFF Research Database (Denmark)

Rohlin, A; Engwall, Y; Fritzell, K

2011-01-01

inactivation of promoter 1B is disease causing in FAP; (ii) expression of transcripts from promoter 1B is generated at considerable higher levels compared with 1A, demonstrating a hitherto unknown importance of 1B; (iii) adenoma formation in FAP, caused by impaired function of promoter 1B, does not require......Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half...... of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to an imbalance in allele-specific expression of APC, and transcription from promoter 1B was highly impaired in both normal colorectal mucosa and blood from mutation carriers. To establish the significance...

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

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Zobor, Ditta; Balousha, Ghassan; Baumann, Britta; Wissinger, Bernd

2014-01-01

Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP. We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa. DNA samples were collected from the index patient, his father, his affected sister, and two non-affected brothers. DNA sample from the index was subjected to high resolution genome-wide SNP array. Assuming identity-by-descent in this consanguineous family we applied homozygosity mapping to identify disease causing genes. The index patient reported night blindness since the age of 20 years, followed by moderate disease progression with decrease of peripheral vision, the development of photophobia and later on reduced central vision. At the age of 40 his visual acuity was counting fingers (CF) for both eyes, color discrimination was not possible and his visual fields were severely constricted. Funduscopic examination revealed a typical appearance of advanced RP with optic disc pallor, narrowed retinal vessels, bone-spicule like pigmentary changes in the mid-periphery and atrophic changes in the macula. His younger affected brother (37 years) was reported with overall milder symptoms, while the youngest sister (21 years) reported problems only with night vision. Applying high-density SNP arrays we identified several homozygous genomic regions one of which included the recently identified FAM161A gene mutated in RP28-linked autosomal recessive RP. Sequencing analysis revealed the presence of a novel homozygous nonsense mutation, c.1003C>T/p.R335X in the index patient and the affected sister. We identified an RP28-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A. RP in this family shows a typical disease onset with moderate to rapid progression

Are movements necessary for the sense of body ownership? Evidence from the rubber hand illusion in pure hemiplegic patients.

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Burin, Dalila; Livelli, Alessandro; Garbarini, Francesca; Fossataro, Carlotta; Folegatti, Alessia; Gindri, Patrizia; Pia, Lorenzo

2015-01-01

A question still debated within cognitive neuroscience is whether signals present during actions significantly contribute to the emergence of human's body ownership. In the present study, we aimed at answer this question by means of a neuropsychological approach. We administered the classical rubber hand illusion paradigm to a group of healthy participants and to a group of neurological patients affected by a complete left upper limb hemiplegia, but without any propriceptive/tactile deficits. The illusion strength was measured both subjectively (i.e., by a self-report questionnaire) and behaviorally (i.e., the location of one's own hand is shifted towards the rubber hand). We aimed at examining whether, and to which extent, an enduring absence of movements related signals affects body ownership. Our results showed that patients displayed, respect to healthy participants, stronger illusory effects when the left (affected) hand was stimulated and no effects when the right (unaffected) hand was stimulated. In other words, hemiplegics had a weaker/more flexible sense of body ownership for the affected hand, but an enhanced/more rigid one for the healthy hand. Possible interpretations of such asymmetrical distribution of body ownership, as well as limits of our results, are discussed. Broadly speaking, our findings suggest that the alteration of the normal flow of signals present during movements impacts on human's body ownership. This in turn, means that movements have a role per se in developing and maintaining a coherent body ownership.

Are movements necessary for the sense of body ownership? Evidence from the rubber hand illusion in pure hemiplegic patients.

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Dalila Burin

Full Text Available A question still debated within cognitive neuroscience is whether signals present during actions significantly contribute to the emergence of human's body ownership. In the present study, we aimed at answer this question by means of a neuropsychological approach. We administered the classical rubber hand illusion paradigm to a group of healthy participants and to a group of neurological patients affected by a complete left upper limb hemiplegia, but without any propriceptive/tactile deficits. The illusion strength was measured both subjectively (i.e., by a self-report questionnaire and behaviorally (i.e., the location of one's own hand is shifted towards the rubber hand. We aimed at examining whether, and to which extent, an enduring absence of movements related signals affects body ownership. Our results showed that patients displayed, respect to healthy participants, stronger illusory effects when the left (affected hand was stimulated and no effects when the right (unaffected hand was stimulated. In other words, hemiplegics had a weaker/more flexible sense of body ownership for the affected hand, but an enhanced/more rigid one for the healthy hand. Possible interpretations of such asymmetrical distribution of body ownership, as well as limits of our results, are discussed. Broadly speaking, our findings suggest that the alteration of the normal flow of signals present during movements impacts on human's body ownership. This in turn, means that movements have a role per se in developing and maintaining a coherent body ownership.

A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

DEFF Research Database (Denmark)

Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

2003-01-01

. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...... sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function...

Another way to teach family: family nursing game

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Carla Sílvia Neves da Nova Fernandes

2014-10-01

Full Text Available Current paper describes the application of an innovative strategy to teach family, within a hospital context, by sensitizing nurses on the family subject through the use of a game. Given the hospitalization of a relative, the family faces changes in its dynamics caused by the crisis it is exposed to. It is the relevance for including the family within the care process. Since nurses are expected to assume a key role for which they need specific competence to intervene in families when experiencing an eventual crisis. The in-service education becomes a strategy of generating new skills and enhances human capital to improve the quality of nursing care. Considering the importance of including family in the care context, a playful tool called Family Nursing Game has been invented for teaching the family, especially by passing a model of family intervention. The strategy is based on the belief of the existence of relationship between game and learning.

[A rare cause of hypercalcaemia: familial hypocalciuric hypercalcaemia (author's transl)].

Science.gov (United States)

Alexandre, C; Riffat, G; Chappard, D; Chappard, C; Fulchiron, H

Two cases of familial hypocalciuric hypercalcaemia (FHH) in the same family are presented. This congenital disease is characterized by biochemical evidence of parathyroid toxicity but differs from primary hyperparathyroidism by the presence of normal parathyroid hormone levels. However, histomorphometric studies of transiliac bone biopsy specimens after double-labeling with tetracycline shows intensive remodelling of bone tissue with increase in osteoclastic resorption and osteoblastic apposition areas, all features identical with those observed primary hyperparathyroidism. The authors suggest hypersensitivity of target-organs (bones and kidneys) to parathyroid hormone as a probable physiopathological mechanism for FHH.

[New developments in spastic unilateral cerebral palsy].

Science.gov (United States)

Chabrier, S; Roubertie, A; Allard, D; Bonhomme, C; Gautheron, V

2010-01-01

Hemiplegic (or spastic unilateral) cerebral palsy accounts for about 30% of all cases of cerebral palsy. With a population prevalence of 0.6 per 1000 live births, it is the most common type of cerebral palsy among term-born children and the second most common type after diplegia among preterm infants. Many types of prenatal and perinatal brain injury can lead to congenital hemiplegia and brain MRI is the most useful tool to classify them with accuracy and to provide early prognostic information. Perinatal arterial ischemic stroke thus appears as the leading cause in term infants, whereas encephalopathy of prematurity is the most common cause in premature babies. Other causes include brain malformations, neonatal sinovenous thrombosis, parenchymal hemorrhage (for example due to coagulopathy or alloimmune thrombocytopenia) and the more recently described familial forms of porencephaly associated with mutations in the COL4A1 gene. In adjunction with pharmacologic treatment (botulinium neurotoxin injection), new evidence-based rehabilitational interventions, such as constraint-induced movement therapy and mirror therapy, are increasingly being used.

Application of Induced Containment Therapy with adapted protocol for home care and its contributions to the motor condition and patient rehabilitation after encephalic vascular accident

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Daniela Tonús

2015-09-01

Full Text Available Introduction: Encephalic Vascular Accident (EVA is among the most important diseases that cause physical and functional limitations. Hemiplegia is the most common physical changes post-EVA, as compromises the upper and lower limbs at the same side of the body, characterized by a rigid pattern of the flexor muscles of the upper limb and the extensor muscles of the lower limb. The Induced Containment Therapy has been a major rehabilitation technique recently aiming to promote functional improvement of the hemiplegic limb of those who suffered EVA and enable performance and quality of life of the individual. Objective: This study aimed to identify the possible contributions of Induced Containment Therapy using a protocol adapted to technique application to the hemiplegic limb. Moreover, this research points out the influence of the environment interventions, which on the present study, occurred in the participant’s home. Method: this is a case study with exploratory feature. Results and Conclusion: The results indicated improvements in functional ability at the time of execution of the tasks and increased use of hemiplegic limb, increasing motor performance after applying the Induced Containment Therapy adapted protocol compared to the start of treatment

Familial polycystic ovarian disease.

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Givens, J R

1988-12-01

Emphasis is placed on the heterogeneity of the phenotypic presentation of PCOD. It is the common expression of an unknown number of disorders and thus is a sign and not a specific diagnosis. Two essential features are arrested follicular maturation and atresia of follicles. Normal folliculogenesis is described, emphasizing that a large number of areas could be subject to derangement causing PCOD. Any interference of the finely balanced sequence of events can lead to PCOD. The genetic defect causing familial PCOD is unknown and the initiating event remains undefined. Three families are described that illustrate four features of familial PCOD. A number of associated disorders such as diabetes, hyperinsulinemia, obesity, and hypertension are described. The potential importance of agents that modulate the LH and FSH activity that may cause PCOD is emphasized. The theoretic means by which similar male and female gonadal abnormalities may be coupled in families through growth factors EGF and alpha TGF are presented.

Family environment patterns in families with bipolar children.

Science.gov (United States)

Belardinelli, Cecilia; Hatch, John P; Olvera, Rene L; Fonseca, Manoela; Caetano, Sheila C; Nicoletti, Mark; Pliszka, Steven; Soares, Jair C

2008-04-01

We studied the characteristics of family functioning in bipolar children and healthy comparison children. We hypothesized that the family environment of bipolar children would show greater levels of dysfunction as measured by the Family Environment Scale (FES). We compared the family functioning of 36 families that included a child with DSM-IV bipolar disorder versus 29 comparison families that included only healthy children. All subjects and their parents were assessed with the K-SADS-PL interview. The parents completed the FES to assess their current family functioning. Multivariate analysis of variance was used to compare the family environment of families with and without offspring with bipolar disorder. Parents of bipolar children reported lower levels of family cohesion (pfamilies where a parent had a history of mood disorders compared to families where parents had no history of mood disorders. Length of illness in the affected child was inversely associated with family cohesion (r=-0.47, p=0.004). Due to the case-control design of the study, we cannot comment on the development of these family problems or attribute their cause specifically to child bipolar disorder. Families with bipolar children show dysfunctional patterns related to interpersonal interactions and personal growth. A distressed family environment should be addressed when treating children with bipolar disorder.

Genetics Home Reference: familial candidiasis

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... Facebook Twitter Home Health Conditions Familial candidiasis Familial candidiasis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial candidiasis is an inherited tendency to develop infections caused ...

High-Performing Families: Causes, Consequences, and Clinical Solutions. The Family Psychology and Counseling Series.

Science.gov (United States)

Robinson, Bryan E., Ed.; Chase, Nancy D., Ed.

This book explores the dilemma of the increasing obsession with work and the resulting imbalances between career and family life. Through theoretical frameworks and case examples it discusses the negative consequences of the societal phenomena of over-work and over-dedication to careers, which have been misdiagnosed or ignored by mental health…

Channelopathies

OpenAIRE

Kim, June-Bum

2014-01-01

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ven...

Dual-career family as an exampleof egalitarian family

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Joanna Ostrouch-Kamińska

2011-11-01

Full Text Available The economic, cultural, and social transformation, growth of women's economic strength as well as the level of their education, and development of ideas of equal rights of women and men on the labour market and in social life cause changes in gender relation in the family. Poles more and more often declare and support egalitarian family, and a new model of a family appears among existing ones – dual-career family.The main aim of the article is to consider the sources of its rise, description of gender positions in marital relation, the division of tasks and responsibilities, possible dilemmas and conflicts, but also emotional, intellectual and social advantages. The analysis were put into context of changes in defining and describing family, and also in context of different family discourses. One of them was underlined the most – egalitarian one as the most approximate to the way of defining and understanding dual-career family model.

Impact of the difference in the plantar flexor strength of the ankle joint in the affected side among hemiplegic patients on the plantar pressure and walking asymmetry.

Science.gov (United States)

You, Young Youl; Chung, Sin Ho; Lee, Hyung Jin

2016-11-01

[Purpose] This study was to examine the changes in the gait lines and plantar pressures in static and dynamic circumstances, according to the differences in the strengths of the plantar flexors in the ankle joints on the affected sides of hemiplegic patients, and to determine their impacts on walking symmetry. [Subjects and Methods] A total of thirty hospitalized stroke patients suffering from hemiplegia were selected in this study. The subjects had ankylosing patterns in the ankle joints of the affected sides. Fifteen of the patients had plantar flexor manual muscle testing scores between poor and fair, while fifteen of the patients had zero and trace. [Results] The contact pattern of the plantar surface with the ground is a reliable method for walking analysis, which is an important index for understanding the ankle mechanism and the relationship between the plantar surface and the ground. [Conclusion] The functional improvement of patients with stroke could be supported through a verification of the analysis methods of the therapy strategy and walking pattern.

Vascular mechanism of axonal degeneration in peripheral nerves in hemiplegic sides after cerebral hemorrhage: An experimental study

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Bayram Ednan

2008-04-01

Full Text Available Abstract Background Though retrograde neuronal death and vascular insufficiency have been well established in plegics following intracerebral hemorrhage, the effects of plegia on arterial nervorums of peripheral nerves have not been reported. In this study, the histopathological effects of the intracerebral hemorrhage on the dorsal root ganglions and sciatic nerves via affecting the arterial nervorums were investigated. Methods This study was conducted on 13 male hybrid rabbits. Three animals were taken as control group and did not undergo surgery. The remaining 10 subjects were anesthetized and were injected with 0.50 ml of autologous blood into their right sensory-motor region. All rabbits were followed-up for two months and then sacrificed. Endothelial cell numbers and volume values were estimated a three dimensionally created standardized arterial nervorums model of lumbar 3. Neuron numbers of dorsal root ganglions, and axon numbers in the lumbar 3 nerve root and volume values of arterial nervorums were examined histopathologically. The results were analyzed by using a Mann-Whitney-U test. Results Left hemiplegia developed in 8 animals. On the hemiplegic side, degenerative vascular changes and volume reduction in the arterial nervorums of the sciatic nerves, neuronal injury in the dorsal root ganglions, and axonal injury in the lumbar 3 were detected. Statistical analyses showed a significant correlation between the normal or nonplegic sides and plegic sides in terms of the neurodegeneration in the dorsal root ganglions (p Conclusion Intracerebral hemorrhage resulted in neurodegeneration in the dorsal root ganglion and axonolysis in the sciatic nerves, endothelial injury, and volume reduction of the arterial nervorums in the sciatic nerves. The interruption of the neural network connection in the walls of the arterial nervorums in the sciatic nerves may be responsible for circulation disorders of the arterial nervorums, and arterial

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

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Shamim Saleha

2016-05-01

Full Text Available AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH. To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat (STR markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene. RESULTS: By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them, c.1304A>C was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype. This, c.1304A>C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435 (p.D435A of its protein product. Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic. CONCLUSION: The identification of c.1304A>C pathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is the first example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.

Science.gov (United States)

Saleha, Shamim; Ajmal, Muhammad; Jamil, Muhammad; Nasir, Muhammad; Hameed, Abdul

2016-01-01

To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH). To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat (STR) markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene. By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them, c.1304A>C was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype. This, c.1304A>C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435 (p.D435A) of its protein product. Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic. The identification of c.1304A>C pathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is the first example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.

Molecular basis of familial hypercholesterolemia

NARCIS (Netherlands)

Bruikman, Caroline S.; Hovingh, Gerard K.; Kastelein, John J. P.

2017-01-01

Purpose of review To provide an overview about the molecular basis of familial hypercholesterolemia. Recent findings Familial hypercholesterolemia is a common hereditary cause of premature coronary heart disease. It has been estimated that 1 in every 250 individuals has heterozygous familial

APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

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Dussaillant Catalina

2012-11-01

Full Text Available Abstract Background Severe hypertriglyceridemia (HTG has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel. Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

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Dussaillant, Catalina; Serrano, Valentina; Maiz, Alberto; Eyheramendy, Susana; Cataldo, Luis Rodrigo; Chavez, Matías; Smalley, Susan V; Fuentes, Marcela; Rigotti, Attilio; Rubio, Lorena; Lagos, Carlos F; Martinez, José Alfredo; Santos, José Luis

2012-11-15

Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis) were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel). Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter) found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

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Daiger, Stephen P.; Bowne, Sara J.; Sullivan, Lori S.

2015-01-01

Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there is considerable overlap with other types of inherited disease. Currently, it is possible to detect disease-causing mutations in 50%–75% of adRP families in select populations. Genetic diagnosis of adRP has advantages over other forms of RP because segregation of disease in families is a useful tool for identifying and confirming potentially pathogenic variants, but there are disadvantages too. In addition to identifying the cause of disease in the remaining 25% of adRP families, a central challenge is reconciling clinical diagnosis, family history, and molecular findings in patients and families. PMID:25304133

Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families

Energy Technology Data Exchange (ETDEWEB)

Mori, Yuichi; Miura, Yoshitaka; Saito, Hidehiko [Toyota Memorial Hospital (Japan)] [and others

1995-12-01

T{sub 4}-binding globulin (TBG) is the major thyroid hormone transport protein in man. Inherited abnormalities in the level of serum TBG have been classified as partial deficiency, complete deficiency, and excess. Sequencing analysis of the TBG gene, located on Xq21-22, has uncovered the molecular defects causing partial and complete deficiency. However, the mechanism leading to inherited TBG excess remains unknown. In this study, two Japanese families, F-A and F-T, with inherited TBG excess were analyzed. Serum TBG levels in hemizygous males were 58 and 44 {mu}g/mL, 3- and 2-fold the normal value, respectively. The molecule had normal properties in terms of heat stability and isoelectric focussing pattern. The sequence of the coding region and the promoter activity of the TBG gene were also indistinguishable between hemizygotes and normal subjects. The gene dosage of TBG relative to that of {beta}-globin, which is located on chromosome 11, and Duchenne muscular dystropy, which is located on Xp, was evaluated by coamplification of these target genes using polymerase chain reaction and subsequent quantitation by HPLC. The TBG/{beta}-globin ratios of the affected male and female of F-A were 3.13 and 4.13 times, respectively, that in the normal males. The TBG/Duchenne muscular dystrophy ratios were 2.92 and 2.09 times the normal value, respectively. These results are compatible with three copies of TBG gene on the affected X-chromosome. Similarly, a 2-fold increase in gene dosage was demonstrated in the affected hemizygote of F-T. A 3-fold tandem amplification of the TBG gene was shown by in situ hybridization of prometaphase and interphase chromosomes from the affected male with a biotinylated genomic TBG probe, confirming the gene dosage results. Gene amplification of TBG is the cause of inherited TBG excess in these two families. 35 refs., 3 figs., 2 tabs.

Matching career and family related factors for families with children

OpenAIRE

Rutkienė, Aušra; Trepulė, Elena

2015-01-01

Work-family conflict is a complex, multi-dimensional construct. When families decide to continue their professional career, work and family role matching demands efforts and causes strain. Results of a qualitative research show that having and taking care of pre-school and primary-school age children is one of main conflict reasons. Child-care arrangements have an important impact on parents’ experiences of work and their career paths. Job tenure and involvement into work-team are lower stres...

Work Ethic: Materialism and the American Family. Hearing before the Subcommittee on Aging, Family and Human Services of the Committee on Labor and Human Resources, United States Senate, Ninety-Seventh Congress, Second Session on Examination on the Impact of Stress on the Family Caused by the Workplace, Focusing on Dual Wage-Earning Parents and the Effects on Family Relationships, and the Nonworking Recipient of Public Assistance.

Science.gov (United States)

Congress of the U.S., Washington, DC. Senate Committee on Labor and Human Resources.

This congressional hearing contains testimony pertinent to the impact of stress on the American family caused by the workplace. Focus of the hearing is on dual wage-earning parents and the effects on family relationships as well as on non-working recipients of public assistance. The following agencies and organizations were among those represented…

Scattered Families : Transnational family life of Afghan refugees in the Netherlands in the light of the human rights based protection of the family

NARCIS (Netherlands)

Muller, P.H.A.M|info:eu-repo/dai/nl/165624647

2009-01-01

This study focuses on family life of Afghan refugees in the Netherlands, within and across borders. While family life constitutes a foundation in the lives of human beings, the disruption of the family through external causes has a huge impact on the people involved. In the case of refugees, many of

Educational gains in cause-specific mortality: Accounting for cognitive ability and family-level confounders using propensity score weighting.

Science.gov (United States)

Bijwaard, Govert E; Myrskylä, Mikko; Tynelius, Per; Rasmussen, Finn

2017-07-01

A negative educational gradient has been found for many causes of death. This association may be partly explained by confounding factors that affect both educational attainment and mortality. We correct the cause-specific educational gradient for observed individual background and unobserved family factors using an innovative method based on months lost due to a specific cause of death re-weighted by the probability of attaining a higher educational level. We use data on men with brothers from the Swedish Military Conscription Registry (1951-1983), linked to administrative registers. This dataset of some 700,000 men allows us to distinguish between five education levels and many causes of death. The empirical results reveal that raising the educational level from primary to tertiary would result in an additional 20 months of survival between ages 18 and 63. This improvement in mortality is mainly attributable to fewer deaths from external causes. The highly educated gain more than nine months due to the reduction in deaths from external causes, but gain only two months due to the reduction in cancer mortality and four months due to the reduction in cardiovascular mortality. Ignoring confounding would lead to an underestimation of the gains by educational attainment, especially for the less educated. Our results imply that if the education distribution of 50,000 Swedish men from the 1951 cohort were replaced with that of the corresponding 1983 cohort, 22% of the person-years that were lost to death between ages 18 and 63 would have been saved for this cohort. Copyright © 2017 Elsevier Ltd. All rights reserved.

A sewage disposal failure as a cause of ascariasis and giardiasis epidemic in a family.

Science.gov (United States)

Totkova, A; Klobusicky, M; Holkova, R; Valent, M; Stojkovicova, H

2004-01-01

In monitoring the incidence of intestinal parasites in children and employees of a nursery the authors examined 31 children with 8 (25.81%) and 16 employees with 3 (18.75%) positive results. The authors wanted to examine also the family members of 8 positive children and 3 positive employees but except from the cleaner's family, (Ascaris lumburicoides, Enterobius vermicularis and Entamoeba coli) nobody accepted the offer. All 8 members of a large family except for Patient 1 (a cleaner) and her grandson were without clinical and laboratory findings. They constitute 3 independent families who lived in 1st category flats. On August 31 there was an extensive sewage disposal failure in the ground floor flat of Family II and the flat was flooded by sewage. All family members worked solidarily on cleaning and also the members of Family IV who are friends of Family II. As shown by clinical symptoms of 'virosis', during the pre-patent period and after an outbreak within 73-78 days, laboratory findings of the family members demonstrated a severe family infection equal to a epidemic of intestinal parasitosis. Ascaris lumbricoides was diagnosed in 8 family members (61.54%) and Giardia intestinalis in 7 family members (53.85%) involved in cleaning. Enterobius vermicularis was found in 2 and Etamoeba coli in 1 family member. In monitored persons, in extreme hygienic conditions during the failure and later, a mass contraction arose on the basis of infection. The fact, that family epidemic arose subsequently, proved, in contrast to sporadic findings in children and adults, a 6.4 and 3.3 times higher incidence of Ascaris lumbricoides and a 5.6 and 8.6 times higher incidence of Giardia intestinalis. The authors discus the reasons of incidence and also preventive measures in population. (Tab. 3, Ref. 29.).

Judesių ribojimo ir veidrodinio аtspindžio terаpijų poveikis vаikų, turinčių cerebrinį pаrаlyžių, rаnkos funkcijаi ir аpsitаrnаvimui.

OpenAIRE

Stasiulienė, Ksenija

2017-01-01

The aim of the research: Identification of constraint-induced movement therapy and mirror therapy effects for children with cerebral palsy (spastic hemiplegic) to hand function and self-care. The tasks of the research: 1. To evaluate constraint-induced movement therapy effects for children with cerebral palsy (spastic hemiplegic) to hand function and self-care. 2. To evaluate mirror therаpy effects on children with cerebral palsy (spastic hemiplegic) for hand function and self-care. 3. Ide...

Putting Families in the Center: Family Perspectives on Decision Making and ADHD and Implications for ADHD Care

Science.gov (United States)

Davis, Catherine C.; Claudius, Milena; Palinkas, Lawrence A.; Wong, John B.; Leslie, Laurel K.

2012-01-01

Objective: To examine components of family-centered care in families' stories about treatment decision making for their child with ADHD. Method: Twenty-eight families participated in qualitative interviews that addressed families' perspectives on (a) the treatment decision-making process, (b) the cause and impact of their child's symptoms, and (c)…

Familial Risks of Kidney Failure in Sweden: A Nationwide Family Study

OpenAIRE

Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina; Zöller, Bengt

2014-01-01

BACKGROUND: The value of family history as a risk factor for kidney failure has not been determined in a nationwide setting. AIM: This nationwide family study aimed to determine familial risks for kidney failure in Sweden. METHODS: The Swedish multi-generation register on 0-78-year-old subjects were linked to the Swedish patient register and the Cause of death register for 1987-2010. Individuals diagnosed with acute kidney failure (n = 10063), chronic kidney failure (n = 18668), or unspecifie...

Risk-taking behavior in private family firms: the role of the non-family CEO

OpenAIRE

Huybrechts, Jolien; Voordeckers, Wim; Lybaert, Nadine; Vandemaele, Sigrid

2011-01-01

This paper studies the risk-taking behavior of private family firms in general as well as variations in risk-taking behavior among the group of family firms. We use the agency perspective to theoretically argue that the usually high degree of coupling of ownership and management causes family firms to be on average less risk-taking than non-family firms. The introduction of a non-family CEO who usually has no or only limited legal ownership will have a positive influence on the level of risk-...

Designing families and solid citizens: the dialectic of modernity and the Matrimonial Causes Bill, 1959.

Science.gov (United States)

Walter, J

2001-01-01

Policy-makers in the 1940s and 50s were intent on designing families which would produce solid citizens to engage in nation building. Historians offamilism treat it as an expression of modernism: a unifying, oppressive discourse now to be countered by the destabilising project of postmodernism. But this is not the whole story, for it omits the dialectical essence of 'the modern', which promises both 'progress' through technical rationality and individual achievement/self fulfilment. The other side of the dialectic has been avoided by dismissing individualism as a process of interpellation closely tied to the interests of technocratic elites. Out of the discontinuities within modernism there emerged opportunities for agency, the chance for people to make their own lives. The public controversy over the Matrimonial Causes Bill, 1959-at the height of what we are encouraged to think of as the familist decade-is explored as one instance.

Psychological Support for Families During Crises (as exemplified by families members of Ukrainian war veterans

Directory of Open Access Journals (Sweden)

Yablonska Tetiana

2017-06-01

Full Text Available The goal of the article is to describe the theoretical and empirical research of characteristics of families under non-normative crises, having as an example the families of combatants participated in the anti-terrorist operation in Ukraine. The following family crises are discussed: normative crises, as period of transition from one stage of the family life cycle to another and non-normative crises caused by traumatic life events.

Familial dysautonomia

Science.gov (United States)

... condition. FD occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused ... also be used for prenatal diagnosis. People of Eastern European Jewish background and families with a history ...

Familial knockin mutation of LRRK2 causes lysosomal dysfunction and accumulation of endogenous insoluble α-synuclein in neurons.

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Schapansky, Jason; Khasnavis, Saurabh; DeAndrade, Mark P; Nardozzi, Jonathan D; Falkson, Samuel R; Boyd, Justin D; Sanderson, John B; Bartels, Tim; Melrose, Heather L; LaVoie, Matthew J

2018-03-01

Missense mutations in the multi-domain kinase LRRK2 cause late onset familial Parkinson's disease. They most commonly with classic proteinopathy in the form of Lewy bodies and Lewy neurites comprised of insoluble α-synuclein, but in rare cases can also manifest tauopathy. The normal function of LRRK2 has remained elusive, as have the cellular consequences of its mutation. Data from LRRK2 null model organisms and LRRK2-inhibitor treated animals support a physiological role for LRRK2 in regulating lysosome function. Since idiopathic and LRRK2-linked PD are associated with the intraneuronal accumulation of protein aggregates, a series of critical questions emerge. First, how do pathogenic mutations that increase LRRK2 kinase activity affect lysosome biology in neurons? Second, are mutation-induced changes in lysosome function sufficient to alter the metabolism of α-synuclein? Lastly, are changes caused by pathogenic mutation sensitive to reversal with LRRK2 kinase inhibitors? Here, we report that mutation of LRRK2 induces modest but significant changes in lysosomal morphology and acidification, and decreased basal autophagic flux when compared to WT neurons. These changes were associated with an accumulation of detergent-insoluble α-synuclein and increased neuronal release of α-synuclein and were reversed by pharmacologic inhibition of LRRK2 kinase activity. These data demonstrate a critical and disease-relevant influence of native neuronal LRRK2 kinase activity on lysosome function and α-synuclein homeostasis. Furthermore, they also suggest that lysosome dysfunction, altered neuronal α-synuclein metabolism, and the insidious accumulation of aggregated protein over decades may contribute to pathogenesis in this late-onset form of familial PD. Copyright © 2017 Elsevier Inc. All rights reserved.

Transplantation of motoneurons derived from MASH1-transfected mouse ES cells reconstitutes neural networks and improves motor function in hemiplegic mice.

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Ikeda, Ritsuko; Kurokawa, Manae S; Chiba, Shunmei; Yoshikawa, Hideshi; Hashimoto, Takuo; Tadokoro, Mamoru; Suzuki, Noboru

2004-10-01

Mouse embryonic stem (ES) cells were transfected with a MASH1 expression vector and G418-resistant cells were selected. The MASH1-transfected cells became neuron-like appearance and expressed betaIIItubulin and panNCAM. Glial fibrillary acidic protein (GFAP) and galactocerebroside (GalC)-expressing cells were rarely detected. Half of the neural cells differentiated into the Islet1+ motoneuron lineage. Thus, we obtained motoneuron lineage-enriched neuronal cells by transfection of ES cells with MASH1. A hemiplegic model of mice was developed by cryogenic injury of the motor cortex, and motoneuron lineage-enriched neuronal cells were transplanted underneath the injured motor cortex neighboring the periventricular region. The motor function of the recipients was assessed by a beam walking and rotarod tests, whereby the results gradually improved, but little improvement was observed in vehicle injected control mice. We found that the grafted cells not only remained close to the implantation site, but also exhibited substantial migration, penetrating into the damaged lesion in a directed manner up to the cortical region. Grafted neuronal cells that had migrated into the cortex were elongated axon-positive for neurofilament middle chain (NFM). Synaptophysin immunostaining showed a positive staining pattern around the graft, suggesting that the transplanted neurons interacted with the recipient neurons to form a neural network. Our study suggests that the motoneuron lineage can be induced from ES cells, and grafted cells adapt to the host environment and can reconstitute a neural network to improve motor function of a paralyzed limb.

A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

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Faruk Incecik

2013-01-01

Full Text Available Sjögren-Larsson syndrome (SLS is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N mutation in exon 6 in two patients.

The effects of onabotulinum toxin A injection into rectus femoris muscle in hemiplegic stroke patients with stiff-knee gait: a placebo-controlled, nonrandomized trial.

Science.gov (United States)

Tok, Fatih; Balaban, Birol; Yaşar, Evren; Alaca, Rdvan; Tan, Arif Kenan

2012-04-01

This study aimed to compare the efficacy of onabotulinum toxin A (onabot) injection into the rectus femoris muscle with that of placebo in the treatment of hemiplegic stroke patients presenting with stiff-knee gait. Twenty-five chronic hemiparetic stroke patients presenting with a stiff-knee gait were included in this study. Fifteen patients received 100-125 U of onabot, and 10 patients received placebo into the rectus femoris muscle. Three-dimensional gait analysis, energy expenditure, 10-m and 6-min walk tests, and spasticity level of the rectus femoris were evaluated at baseline and 2 mos posttreatment. The mean age of patients who received onabot was 53.86 ± 14.74 yrs and of those who received placebo was 59.00 ± 8.11 yrs. At study onset, groups were similar with respect to all parameters (P > 0.05). We observed significant improvement in knee flexion (7 degrees average) during swing and a reduction in energy cost of 0.8-J/kg per meter response to injection of 100-125 U of onabot into the rectus femoris muscle. Onabot treatment significantly reduced muscle tone and improved knee kinematics, energy expenditure during walking, and functional assessments at 2 mos (P application of onabot into the rectus femoris muscle in stroke patients who presented with stiff-knee gait may be a treatment option to provide independent, safe, and less tiring ambulation.

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.

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Naseer, Muhammad Imran; Rasool, Mahmood; Jan, Mohammed M; Chaudhary, Adeel G; Pushparaj, Peter Natesan; Abuzenadah, Adel M; Al-Qahtani, Mohammad H

2016-12-15

PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins resulting in the disease state. Copyright © 2016 Elsevier B.V. All rights reserved.

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.

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Li, Xuefu; Jiang, Miao; Han, Weitian; Zhao, Ning; Liu, Wei; Sui, Yu; Lu, Yongping; Li, Jianxin

2013-09-25

Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. These autosomal dominant disorders are of variable expressivity and reduced penetrance. Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). However, mutations causing FSS have only been reported in MYH3. Herein we describe a Chinese DA family whose members meet classical strict criteria for FSS, as well as one member of the family who has isolated facial features consistent with FSS. No disease-causing mutation was found in MYH3. Segregation of microsatellite markers flanking the TNNI2 and TNNT3 genes at 11p15.5 was compatible with linkage. Subsequent sequencing of TNNI2 revealed a novel mutation, c.A493T (p.I165F), located in the C-terminal region, which is critical for proper protein function. This mutation was found to cosegregate with the FSS phenotype in this family, and assessment using SIFT and PolyPhen-2 predicted a damaging effect. To the best of our knowledge, we report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism. We infer that DA1, DA2B and FSS represent a phenotypic continuum of the same disorder and provide further genetic evidence for this hypothesis. © 2013.

Family Connections: Visual Supports for Promoting Social Skills in Young Children--A Family Perspective

Science.gov (United States)

Moody, Amelia K.

2012-01-01

Family members of children with autism spectrum disorders (ASDs) often face social, emotional, and behavioral challenges in the home. Difficulty communicating with family members, forming relationships with friends, and responding appropriately to others can cause significant challenges in the home (Diagnostic and Statistical Manual of Mental…

Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

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Miller Michael

2009-01-01

Full Text Available Abstract Background Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional ABCA1 mutations reported to date, splice variants have been reported infrequently. We screened DNA from a 41 year-old male with low HDL-C (12 mg/dL [0.31 mmol/L] and a family history of premature coronary heart disease (CHD using polymerase chain reaction single-strand conformation polymorphism (SSCP analysis. Methods Family members with low levels of HDL-C (n = 6 were screened by SSCP for mutations in ABCA1. Samples with altered SSCP patterns were sequenced directly using either an ABI 3700 or ABI3730Xl DNA Analyzer. To screen for splicing defects, cDNA was isolated from the proband's RNA and was sequenced as above. A series of minigenes were constructed to determine the contribution of normal and defective alleles. Results Two novel splice variants in ABCA1 were identified. The first mutation was a single base pair change (T->C in IVS 7, 6 bps downstream from the exon7/intron7 junction. Amplification of cDNA and allelic subcloning identified skipping of Exon 7 that results in the elimination of 59 amino acids from the first extracellular loop of the ABCA1 protein. The second mutation was a single base pair change (G->C at IVS 31 -1, at the intron/exon junction of exon 32. This mutation causes skipping of exon 32, resulting in 8 novel amino acids followed by a stop codon and a predicted protein size of 1496 AA, compared to normal (2261 AA. Bioinformatic studies predicted an impact on splicing as confirmed by in vitro assays of constitutive splicing. Conclusion In addition to carnitine-acylcarnitine translocase (CACT deficiency and Hermansky-Pudlak syndrome type 3, this represents only the third reported case in which 2 different splice mutations has resulted in an aberrant clinical phenotype.

A study of the stressor, family environment and family burden in dissociative (conversion disorder patients

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Kamal K Verma

2017-01-01

Full Text Available Background: Dissociative disorder is a stress-related disorder usually present in adolescent and younger age group. It is also accompanied with significant impairment in activity of daily living and family relationship. Family environment plays important role in initiation and maintenance of symptoms and this put significant burden on family. Aim and Objective: To study presence of stressor, family environment, and assessment of family burden in dissociative disorder patients. Material and Method: This was a cross-sectional observational study in which 100 dissociatives disorder patients were included after fulfilling inclusion criteria from both inpatients and outpatient department of psychiatry. Results: In our study major part of the sample were women 60 (60%, among them most of were housewife and educated up to primary school. According to a stressor, 63 (63% patients had family stress/problem and out of them, 35 (58.4 were women. Seventy-four (74% patients had dissociative convulsion and out of them, 45 (75% were women. The dissociative disorder patients cause a considerable degree of burden over other family members in both men and women. There is a significant difference found in the family environment in term of personal growth dimension, relationship dimension in both men and women. Conclusion: Present study concludes that dissociative disorder patients cause a considerable degree of burden over other family members in term of leisure, physical, mental, financial, and routines family interrelationship domains. The family environment in term of personal growth dimension, relationship dimension has a casual effect on symptoms of dissociative disorder patients.

Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene

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Lise Bols Toustrup

2017-03-01

Full Text Available Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI is caused by variants in the arginine vasopressin (AVP gene. Here we report the generation of induced pluripotent stem cells (iPSCs from a 42-year-old man carrying an adFNDI causing variant in exon 1 of the AVP gene using lentivirus-mediated nuclear reprogramming. The iPSCs carried the expected variant in the AVP gene. Furthermore, the iPSCs expressed pluripotency markers; displayed in vitro differentiation potential to the three germ layers and had a normal karyotype consistent with the original fibroblasts. This iPSC line is useful in future studies focusing on the pathogenesis of adFNDI.

A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

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Cheema Abdul

2008-11-01

Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

Fabry Disease in Families With Hypertrophic Cardiomyopathy

DEFF Research Database (Denmark)

Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

2017-01-01

BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

Work-Family conflict as a cause for e turnover intentions in the hospitality industry

NARCIS (Netherlands)

Blomme, R.J.; Rheede, van A.; Tromp, D.M.

2010-01-01

This study examines the work-family conflict approach to the turnover intentions of highly educated employees within the hospitality industry. The purpose was to investigate the relation between workplace flexibility, organizational support, work-family conflict and the intention to leave among

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations

NARCIS (Netherlands)

van Paassen, Barbara W.; Bronk, Marieke; Verhamme, Camiel; van Ruissen, Fred; Baas, Frank; van Spaendonck-Zwarts, Karin Y.; de Visser, Marianne

2017-01-01

We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband needed walking aids since adolescence because of

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

NARCIS (Netherlands)

A. Legati (Andrea); D. Giovannini (Donatella); G. Nicolas (Gaël); U. López-Sánchez (Uriel); B. Quintáns (Beatriz); J.R. Oliveira (Joao); R.L. Sears (Renee L); E.M. Ramos (Eliana Marisa); E. Spiteri (Elizabeth); M.J. Sobrido (Maria); A. Carracedo (Angel); C. Castro-Fernández (Cristina); S. Cubizolle (Stéphanie); B.L. Fogel (Brent L); C. Goizet (Cyril); J.C. Jen (Joanna C); S. Kirdlarp (Suppachok); A.E. Lang (Anthony E); Z. Miedzybrodzka (Zosia); W. Mitarnun (Witoon); M. Paucar (Martin); H.L. Paulson (Henry); J. Pariente (Jérémie); A.-C. Richard (Anne-Claire); N.S. Salins (Naomi S); S.A. Simpson (Sheila A); P. Striano (Pasquale); P. Svenningsson (Per); F. Tison (François); V.K. Unni (Vivek K); O. Vanakker (Olivier); M.W. Wessels (Marja); S. Wetchaphanphesat (Suppachok); M. Yang (Michele); F. Boller (Francois); D. Campion (Dominique); D. Hannequin (Didier); M. Sitbon (Marc); H. Geschwind; J.-L. Battini (Jean-Luc); D. Coppola (Domenico)

2015-01-01

textabstractPrimary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations

Family dynamics in families with children with Attention Deficit Hyperactivity Disorder.

Science.gov (United States)

Chu, Kangkang; Li, Shasha; Chen, Yixin; Wang, Mingchun

2012-10-01

Development of adjunctive family therapy for the treatment of children with Attention Deficit Hyperactivity Disorder (ADHD) in China requires a detailed understanding of the family dynamics of these families. Assess the family dynamics of families with children who have ADHD in Nanjing, China. Forty-six children 10 to 17 years of age treated at the Nanjing Brain Hospital for ADHD and 46 control children of the same age and gender from schools in Nanjing completed the 19-item Questionnaire of Systematic Family Dynamics (QSFD) which assesses four dimensions of family functioning: Family Atmosphere, Individuation, Moral Absolutism, and Personal Responsibility for Psychological Problems. There were no differences between groups in the perceived causes of psychological problems but the ADHD children reported a poorer family atmosphere, less independence from parents, and more ambiguity about 'right' and 'wrong' in the family. After adjustment for the potential confounding effects of parental education and family economic status, the findings of poorer family atmosphere and less individuation in the ADHD children remained statistically significant. The internal consistency of the four dimensions of the QSFD as completed by the children were poor (alpha=0.44-0.53). This preliminary study on the family dynamics of families with children that have ADHD finds that the ADHD children report a poor family atmosphere and little independence from parents. Further work is needed to validate the methods for assessing family dynamics in Chinese families, particularly when using children as informants, but this method provides valuable information that could be used as the focus of adjunctive family therapy to augment the traditional pharmacological and behavioral approaches to the treatment of ADHD.

Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus.

Science.gov (United States)

Stephen, Matthew D; Fenwick, Raymond G; Brosnan, Patrick G

2012-12-01

A 3-year 5-month-old boy was seen for second opinion regarding polydipsia and polyuria. Previously, a diagnosis of primary polydipsia was made after normal urine concentration after overnight water deprivation testing. The boy's father, paternal grandfather, and paternal aunt had diabetes insipidus treated with desmopressin acetate. Based on this young boy's symptoms, ability to concentrate urine after informal overnight water deprivation, and family history of diabetes insipidus, we performed AVP gene mutation testing. Analysis of the AVP gene revealed a novel mutation G54E that changes a normal glycine to glutamic acid, caused by a guanine to adenine change at nucleotide g.1537 (exon 2) of the AVP gene. Commonly, patients with familial neurohypophyseal diabetes insipidus (FNHDI) present within the first 6 years of life with progressively worsening polyuria and compensatory polydipsia. Since these patients have progressive loss of arginine vasopressin (AVP), they may initially respond normally to water deprivation testing and have normal pituitary findings on brain MRI. Genetic testing may be helpful in these patients, as well as preemptively diagnosing those with a mutation, thereby avoiding unnecessary surveillance of those unaffected.

Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia.

Science.gov (United States)

Ueki, Yumi; Ramirez, Grisela; Salcedo, Ernesto; Stabio, Maureen E; Lefcort, Frances

2016-01-01

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein ( IKBKAP ). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness. To determine the requirement for Ikbkap in the developing and adult retina, we generated Ikbkap conditional knockout (CKO) mice using a TUBA1a promoter-Cre ( Tα1-Cre ). In the retina, Tα1-Cre expression is detected predominantly in retinal ganglion cells (RGCs). At 6 months, significant loss of RGCs had occurred in the CKO retinas, with the greatest loss in the temporal retina, which is the same spatial phenotype observed in FD, Leber hereditary optic neuropathy, and dominant optic atrophy. Interestingly, the melanopsin-positive RGCs were resistant to degeneration. By 9 months, signs of photoreceptor degeneration were observed, which later progressed to panretinal degeneration, including RGC and photoreceptor loss, optic nerve thinning, Müller glial activation, and disruption of layers. Taking these results together, we conclude that although Ikbkap is not required for normal development of RGCs, its loss causes a slow, progressive RGC degeneration most severely in the temporal retina, which is later followed by indirect photoreceptor loss and complete retinal disorganization. This mouse model of FD is not only useful for identifying the mechanisms mediating retinal degeneration, but also provides a model system in which to attempt to test therapeutics that may mitigate the loss of vision in FD patients.

Ethics of Qualitative Interviewing with Grieving Families.

Science.gov (United States)

Rosenblatt, Paul C.

1995-01-01

Illustrations from a recent study of farm families who had lost a family member are used to illuminate some of the ethical challenges in qualitative bereavement research. Included in the exploration are ethics involved in interview recruitment, causing pain, informed consent, the boundaries of research and therapy, family dysfunction, and…

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation.

NARCIS (Netherlands)

Koenderink, J.B.; Zifarelli, G.; Qiu, L.Y.; Schwarz, W.; Pont, J.J.H.H.M. de; Bamberg, E.; Friedrich, T.

2005-01-01

The Na,K-ATPase is an ion-translocating transmembrane protein that actively maintains the electrochemical gradients for Na+ and K+ across the plasma membrane. The functional protein is a heterodimer comprising a catalytic alpha-subunit (four isoforms) and an ancillary beta-subunit (three isoforms).

Family Smoking, Exposure to Secondhand Smoke at Home and Family Unhappiness in Children

Directory of Open Access Journals (Sweden)

Jian Jiu Chen

2015-11-01

Full Text Available Tobacco use adversely affects many aspects of well-being and is disliked by non-smokers. However, its association with family happiness is unknown. We investigated the associations of family unhappiness with smoking in family members and secondhand smoke (SHS exposure at home in Hong Kong children. In a school-based survey in 2012–2013, 1238 primary school students (mean age 8.5 years, standard deviation 0.9; 42.6% boys reported family smoking, SHS exposure at home and whether their families had any unpleasant experience caused by smoking or SHS in the past 30 days (tobacco-related unpleasant experience, and rated the overall level of happiness in their families (family unhappiness. Multivariable logistic regression was used to study the associations of tobacco-related unpleasant experience and family unhappiness with family smoking and SHS exposure at home. Tobacco-related unpleasant experience and family unhappiness were reported by 27.5% and 16.5% of students. Unpleasant experience was more strongly associated with family smoking than SHS exposure at home. Family unhappiness was associated with both family smoking (odds ratio 2.37; 95% confidence interval 1.51–3.71 and SHS exposure at home (1.82; 1.39–2.40. These results suggest a previously neglected possible impact of tobacco use on family happiness.

Frontotemporal dementia caused by CHMP2B mutations

DEFF Research Database (Denmark)

Isaacs, A M; Johannsen, P; Holm, I

2011-01-01

CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. ...

Parental experience of family resources in single-parent families having a child with cancer.

Science.gov (United States)

Huang, I-Chen; Mu, Pei-Fan; Chiou, Tzeon-Jye

2008-10-01

The purpose of this study was to explore the essence of family experiences in terms of family resources and how these assist a single-parent caring for a child with cancer. When families face stresses caused by cancer, they need to readjust their roles, interactive patterns and relationships, both inside and outside the family. During the adaptation process, family resources may assist recovery from stress and a return to equilibrium. Most research has emphasised the support resources available to two-parent families during the treatment process. There is a lack of information on the experiences of single-parent families and their available resources together with the functions and roles played by family resources during the adjustment process. Qualitative. Five major themes were identified: (i) facing the disease with courage; (ii) hope kindled by professionals; (iii) constructing parental role ability; (iv) assisting the children to live with the illness; and (v) family flexibility. The results of the current study demonstrate that single-parent families with a child suffering from cancer employ family resources to assist family adjustment and to maintain family function/equilibrium. These results explain the dynamic interactions between the multiple levels of resources available to the family. The study results provide evidence-based information that identifies the nature of family resources in single-parent families and describes how these resources can be applied to assist the families.

Hair Loss: Common Causes and Treatment.

Science.gov (United States)

Phillips, T Grant; Slomiany, W Paul; Allison, Robert

2017-09-15

Hair loss is often distressing and can have a significant effect on the patient's quality of life. Patients may present to their family physician first with diffuse or patchy hair loss. Scarring alopecia is best evaluated by a dermatologist. Nonscarring alopecias can be readily diagnosed and treated in the family physician's office. Androgenetic alopecia can be diagnosed clinically and treated with minoxidil. Alopecia areata is diagnosed by typical patches of hair loss and is self-limited. Tinea capitis causes patches of alopecia that may be erythematous and scaly and must be treated systemically. Telogen effluvium is a nonscarring, noninflammatory alopecia of relatively sudden onset caused by physiologic or emotional stress. Once the precipitating cause is removed, the hair typically will regrow. Trichotillomania is an impulse-control disorder; treatment is aimed at controlling the underlying psychiatric condition. Trichorrhexis nodosa occurs when hairs break secondary to trauma and is often a result of hair styling or overuse of hair products. Anagen effluvium is the abnormal diffuse loss of hair during the growth phase caused by an event that impairs the mitotic activity of the hair follicle, most commonly chemotherapy. Physician support is especially important for patients in this situation.

Family employees and absenteeism

OpenAIRE

Laszlo Goerke; Jörn Block; Jose Maria Millan; Concepcion Roman

2014-01-01

Work effort varies greatly across employees, as evidenced by substantial differences in absence rates. Moreover, absenteeism causes sizeable output losses. Using data from the European Community Household Panel (ECHP), this paper investigates absence behavior of family employees, i.e. workers who are employed in enterprises owned by a relative. Our estimates indicate that being a family employee instead of a regular employee in the private sector significantly reduces both the probability and...

The impact of partnership in the management of family businesses

OpenAIRE

Janja Škedelj

2016-01-01

Purpose and Originality: The purpose of the survey is to examine and understand interpersonal relationships and their impact on the quality of governance in family businesses. The aim is to present interpersonal relationships in family businesses, their causes and impact on the quality of management. Method: The aim of the article will review and presentation of interpersonal relationships in family businesses, their causes and impacts on the quality of work. We will prese...

Analysis of USAREUR Family Housing.

Science.gov (United States)

1985-04-01

Standard Installation/Division Personnel System SJA ................ Staff Judge Advocate SPSS ............... Statistical Package for the...for Projecting Family Housing Requirements. a. Attempts to define USAREUR’s programmable family housing deficit Sbased on the FHS have caused anguish ...responses using the Statistical Package for the Social Sciences ( SPSS ) computer program. E-2 ANNEX E RESPONSE TO ESC HOUSING QUESTIONNAIRE Section Page I

Family Conflict, Emotional Security, and Child Development: Translating Research Findings into a Prevention Program for Community Families

Science.gov (United States)

Cummings, E. Mark; Schatz, Julie N.

2012-01-01

The social problem posed by family conflict to the physical and psychological health and well-being of children, parents, and underlying family relationships is a cause for concern. Inter-parental and parent-child conflict are linked with children's behavioral, emotional, social, academic, and health problems, with children's risk particularly…

Family and delinquency: Textbooks analysis of family influence on the juvenile delinquency

Directory of Open Access Journals (Sweden)

Ljubičić Milana

2012-01-01

Full Text Available In this paper we are dealing with analysis of the typology of crime causes, with particular reference to the position of the family in the etiology of juvenile delinquency. Our intention was to, by using the so-called mixed content analysis of criminology textbooks; determine the topics of crime patterns, and the typical family characteristics of juveniles pushed into delinquency. On the other hand, the need to consider the influence of the ideas presented by some textbooks authors to their followers appeared to be of particularly importance in a longitudinal perspective. Analysed were 22 textbooks published between 1945-2010 in the former SFR of Yugoslavia and also the Republics that emerged after disintegration of the SFRY. The analysis showed that the significant number of textbooks follow identical pattern of etiological factors which reflects mutual influence of authors on one another. Also, considering the causes juvenile delinquency we noticed that the family takes up a special position. In addition, families of delinquents, regardless of the name under which it is recognized and almost without exception, carry a socially unacceptable ‘degraded’ character. These findings have opened a number of issues related to certain aspects of the scientific base for the existing typologies (e.g., objectivity and verifiability, and the implications that ‘scientific image’ has had on the practical involvement of experts whose professions require knowledge of criminology.

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.

Science.gov (United States)

Thonberg, Håkan; Chiang, Huei-Hsin; Lilius, Lena; Forsell, Charlotte; Lindström, Anna-Karin; Johansson, Charlotte; Björkström, Jenny; Thordardottir, Steinunn; Sleegers, Kristel; Van Broeckhoven, Christine; Rönnbäck, Annica; Graff, Caroline

2017-06-09

Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry mutations in any of these three genes, and candidate genes, such as the sortilin-related receptor 1 (SORL1), have been suggested to be potentially causative. To identify AD causative variants, we performed whole-exome sequencing on five individuals from a family with EOAD and a missense variant, p.Arg1303Cys (c.3907C > T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family. In a targeted re-sequencing effort on independent index patients from 35 EOAD-families, a second SORL1 variant, c.3050-2A > G, was found which segregated with the disease in 3 affected and was absent in one unaffected family member. The c.3050-2A > G variant is located two nucleotides upstream of exon 22 and was shown to cause exon 22 skipping, resulting in a deletion of amino acids Gly1017- Glu1074 of SORL1. Furthermore, a third SORL1 variant, c.5195G > C, recently identified in a Swedish case control cohort included in the European Early-Onset Dementia (EU EOD) consortium study, was detected in two affected siblings in a third family with familial EOAD. The finding of three SORL1-variants that segregate with disease in three separate families with EOAD supports the involvement of SORL1 in AD pathology. The cause of these rare monogenic forms of EOAD has proven difficult to find and the use of exome and genome sequencing may be a successful route to target them.

FAMILY EDUCATION IN MODERN LIFE-DEVELOPMENT STRATEGIES

OpenAIRE

I.I. Dorozhko

2018-01-01

The crisis of a family education in modern societies, which, according to its definition are the risk societies, is caused not only by lagging of its practice from the accelerated pace of modern societies modernization and changes in the organization of family life, but also by the decline of the culture of life development and pedagogical culture of wider population stratum. The changes taking place in modern families, hasty conclusions about the replacement of traditional family with its ne...

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

NARCIS (Netherlands)

Iacovazzo, D. (Donato); Flanagan, S.E. (Sarah E.); Walker, E. (Emily); Quezado, R. (Rosana); De Sousa Barros, F.A. (Fernando Antonio); Caswell, R. (Richard); Johnson, M.B. (Matthew B.); Wakeling, M. (Matthew); Brändle, M. (Michael); Guo, M. (Min); Dang, M.N. (Mary N.); Gabrovska, P. (Plamena); B. Niederle (Bruno); E. Christ (Emanuel); Jenni, S. (Stefan); Sipos, B. (Bence); Nieser, M. (Maike); A. Frilling (Andrea); Dhatariya, K. (Ketan); P. Chanson (Philippe); W.W. de Herder (Wouter); Konukiewitz, B. (Björn); Klöppel, G. (Günter); Stein, R. (Roland); M. Korbonits; S. Ellard (Sian)

2018-01-01

textabstractThe β-cell–enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree

Healthy Family 2009: Protecting Toddlers and Teens

Science.gov (United States)

... Home Current Issue Past Issues Healthy Family 2009 Protecting Toddlers and Teens Past Issues / Winter 2009 Table ... virus that causes a rash, cough, runny nose, eye irritation, and fever Mumps, a virus causing fever, ...

Genetics Home Reference: familial male-limited precocious puberty

Science.gov (United States)

... male-limited precocious puberty Familial male-limited precocious puberty Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Familial male-limited precocious puberty is a condition that causes early sexual development ...

A twin-family study of general IQ.

NARCIS (Netherlands)

van Leeuwen, M.; van den Berg, S.M.; Boomsma, D.I.

2008-01-01

In this paper we assess the presence of assortative mating, gene-environment interaction and the heritability of intelligence in childhood using a twin family design with twins, their siblings and parents from 112 families. We evaluate two competing hypotheses about the cause of assortative mating

A twin-family study of general IQ

NARCIS (Netherlands)

Leeuwen, M; van den Berg, Stéphanie Martine; Boomsma, D.I.

2008-01-01

In this paper we assess the presence of assortative mating, gene¿environment interaction and the heritability of intelligence in childhood usinga twin family design with twins, their siblings and parents from 112 families. We evaluate two competing hypotheses about the cause of assortativemating in

PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

Directory of Open Access Journals (Sweden)

A. Nickavar

2006-09-01

Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

Goniodysgenesis in familial primary open-angle glaucoma

NARCIS (Netherlands)

Verbraak, F. D.; vd Berg, W.; Delleman, J. W.; Greve, E. L.

1994-01-01

Results of a pilot study to evaluate goniodysgenesis as a cause of familial open-angle glaucoma are reported. Patients with a familial high tension open-angle glaucoma and a goniodysgenetic chamber angle (n = 11), a number of their relatives with glaucoma (n = 12), and their relatives without

Caregiver roles in families affected by Huntington's disease

DEFF Research Database (Denmark)

Røthing, Merete; Malterud, Kirsti; Frich, Jan C

2013-01-01

AIM: The objective of this study was to explore family caregivers' experiences with the impact of Huntington's disease (HD) on the family structure and roles in the family. METHODOLOGY: We interviewed 15 family caregivers in families affected by HD, based on a semi-structured interview guide...... for impairments by taking on adult responsibilities, and in some families, a child had the role as main caregiver. The increasing need for care could cause conflicts between the role as family member and family caregiver. The burden of care within the family could fragment and isolate the family. CONCLUSIONS......: Huntington's disease has a major impact on family systems. Caregiver roles are shaped by impairments in the affected family member and corresponding dynamic adoption and change in roles within the family. Making assessments of the family structure and roles, professionals may understand more about how...

Gambling and family: A two-way relationship.

Science.gov (United States)

Subramaniam, Mythily; Chong, Siow Ann; Satghare, Pratika; Browning, Colette J; Thomas, Shane

2017-12-01

Background and aims Families play an important role in the evolution of gambling and are also adversely affected by the disordered gambling of any one of their members. The aims of this study were to explore both the role families play in gambling initiation, maintenance, and help-seeking, and the harm caused to families by the gambling behavior using a qualitative approach. Methods Regular older adult gamblers were included in the study. In-depth interviews were conducted with 25 older adults to gain an understanding of gambling from their perspective. Older adult gamblers described their lived experience of gambling ranging from initiation to harm and attempts to cut down or limit gambling. Data were analyzed using thematic network analysis. Results The mean age of the 25 participants was 66.2 years. The majority were male (n = 18), of Chinese ethnicity (n = 16), had secondary education (n = 9), were married (n = 20), and currently employed (n = 15). Four organizing themes related to the role of families in initiation and maintenance of gambling, harm caused to family members, and their role in help-seeking were identified. Discussion and conclusions The study emphasizes the role of Asian families in both initiation and maintenance of gambling. Hence, families must be involved in prevention and outreach programs. Family members must be educated, so that they can encourage help-seeking to ensure early treatment and recovery. There is a need for interventional studies for reducing stress and improving coping among family members.

Alcohol effects on family relations: a case study.

Science.gov (United States)

Reinaldo, Amanda Márcia Dos Santos; Pillon, Sandra Cristina

2008-01-01

Problems related to alcohol abuse have been associated to different factors, regardless of the causes attributed to this phenomenon. Alcohol consumption and dependence is considered a public health problem and deserve attention because of the social, work, family, physical, legal and violence-related risks it represents. This study aimed to identify the effects of alcoholism on family relations and, by means of case management, to encourage the recovery of these relationships. The results show that the problems caused by alcohol abuse impose profound suffering to family members, which contributes to high levels of interpersonal conflict, domestic violence, parental inadequacy, child abuse and negligence, financial and legal difficulties, in addition to clinical problems associated to it.

[Family violence].

Science.gov (United States)

Manoudi, F; Chagh, R; Es-soussi, M; Asri, F; Tazi, I

2013-09-01

Family violence is a serious public health problem, the scale of which is seriously increasing in Morocco. Although it has existed for a long time, we ignore the real characteristics of this plague in our country; our work consisted in an epidemiological approach of family violence in Marrakech during 2006. After elaborating a questionnaire, which allows the study of the demographic and social profile of the families, the study of violence exercised in the family and the evaluation of the depression in the women, we led an inquiry amongst 265 women. Analysis of the results obtained has allowed us to underline the following characteristics: 16.6% of the women in our sample had been physically beaten; the young age is a risk factor; the age range most affected by violence is in women between the ages of 30 and 40 and which represent 39% of the battered women; domestic violence touches all the social, economic and cultural classes: in our study, 63% of the women having undergone violence were housewives, 25% were managers and 3% senior executives; family problems were the most important cause of violence in our study, representing 32.32%. Requests for money was the cause in 11.3% of the cases, and imposed sexual relations were found in 6.8% of the cases; alcoholism is an aggravating factor of family violence; 27.3% of the spouses who assaulted their wives were drunk; 52% of the assaulted women were victims of violence in childhood and 36% had been witness to their father's violence; in 63.6% of the cases of violence, the children were witnesses, and in 25% of the cases the children were victims of violence at the same time as their mothers; 50% of the women victims of violence did not react, while 38.6% left home, and 9.1 filed for divorce. Thirty-two percent of the assaulted woman had been traumatised by the aggression; the association of depression and violence was very high, 343% of the battered women in our study suffered from severe depression. This work

Field-testing of the ICHD-3 beta/proposed ICD-11 diagnostic criteria for migraine with aura

DEFF Research Database (Denmark)

Li, Dana; Christensen, Anne F; Olesen, Jes

2015-01-01

migraine (SHM) and 1.2.6 basilar-type migraine according to ICHD-2 in a cross-sectional study design. A database of 2464 patients with 1.1 migraine without aura and 1.2 migraine with non-hemiplegic aura and a database of 252 hemiplegic migraine patients (1.2.4 FHM or 1.2.5 SHM) was collected. We used SPSS...

Familial colorectal cancer type X

DEFF Research Database (Denmark)

Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina

2015-01-01

Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention....

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

Directory of Open Access Journals (Sweden)

Zhijie Niu

Full Text Available X-linked hearing impairment is the rarest form of genetic hearing loss (HL and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5 in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G in SMPX were identified in additional sporadic cases of congenital deafness. Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. Our findings extend the mutation and phenotypic spectrum of the SMPX gene.

Genetics Home Reference: familial encephalopathy with neuroserpin inclusion bodies

Science.gov (United States)

... Home Health Conditions FENIB Familial encephalopathy with neuroserpin inclusion bodies Printable PDF Open All Close All Enable ... expand/collapse boxes. Description Familial encephalopathy with neuroserpin inclusion bodies ( FENIB ) is a disorder that causes progressive ...

Violence against children within the family

OpenAIRE

JACEK J. BŁESZYŃSKI; ANITA RODKIEWICZ-ROŻEK

2017-01-01

Th e article presents the problem of child abuse in the family. Shows the causes of violence in the family, but also treats children’s rights under the Convention on the Rights of the child, such as the right to an identity, right to expression, the right to live without violence, the right to social assistance, right to education. Th is article presents the family as the basic environment in which the child is born and brought up, because it has strong infl uence on the shaping of his person...

The confluence model: birth order as a within-family or between-family dynamic?

Science.gov (United States)

Zajonc, R B; Sulloway, Frank J

2007-09-01

The confluence model explains birth-order differences in intellectual performance by quantifying the changing dynamics within the family. Wichman, Rodgers, and MacCallum (2006) claimed that these differences are a between-family phenomenon--and hence are not directly related to birth order itself. The study design and analyses presented by Wichman et al. nevertheless suffer from crucial shortcomings, including their use of unfocused tests, which cause statistically significant trends to be overlooked. In addition, Wichman et al. treated birth-order effects as a linear phenomenon thereby ignoring the confluence model's prediction that these two samples may manifest opposing results based on age. This article cites between- and within-family data that demonstrate systematic birth-order effects as predicted by the confluence model. The corpus of evidence invoked here offers strong support for the assumption of the confluence model that birth-order differences in intellectual performance are primarily a within-family phenomenon.

Family unification within SO(15)

International Nuclear Information System (INIS)

Enqvist, K.; Maalampi, J.

1981-01-01

We present a model for the unification of fermion families based on the gauge symmetry SO(15). It is a minimal SO(n) model which can accommodate the known fermions within a single irreducible representation. The model predicts four ordinary fermion families and four families of mirror fermions. The latter have V + A weak interactions, and their mass scale is predicted to be 10 2 GeV/c 2 . We argue that radiative corrections to the fermion masses can cause non-negligible mixing between ordinary and mirror fermions. The implications of these mixings for the weak interaction phenomenology and solar neutrinos are discussed. (orig.)

Non–family Managers in Family Small and medium firms

Directory of Open Access Journals (Sweden)

Lucila Mariel Garavaglia

2017-11-01

According to the main results, there is a wide variety of causes for hiring non-family managers, and they are asked to do several tasks of different kinds. In addition, it has been found that the recruitment and selection processes are quite informal, with an active participation of the familymember entrepreneur. Finally, the results show a strict employment relationship between the parties.

Spending Less Time with the Family: The Decline of Family Ownership in the UK

OpenAIRE

Julian Franks; Colin Mayer; Stefano Rossi

2003-01-01

Family ownership was rapidly diluted in the twentieth century in Britain. The main cause was equity issued in the process of making acquisitions. In the first half of the century, it occurred in the absence of minority investor protection and relied on directors of target firms protecting the interests of shareholders. Families were able to retain control by occupying a disproportionate number of seats on the boards of firms. However, in the absence of large stakes, the rise of hostile takeov...

Size distributions of member asteroids in seven Hirayama families

International Nuclear Information System (INIS)

Mikami, Takao; Ishida, Keiichi.

1990-01-01

The size distributions of asteroids in the seven Hirayama families are studied for newly assigned member asteroids in the diameter range of about 10 to 100 km. The size distributions for the different families are expressed by the power-law functions with distinctly different power-law indices. The power-law indices for families with small mean orbital inclinations are about 2.5 to 3.0. On the other hand, the power-law indices for families with large mean orbital inclinations are significantly smaller than 2.5. This indicates that the smaller asteroids were removed preferentially from these families after their formation. It is thought that the smaller asteroids left behind the families were dispersed into the main belt. It is consistent with the fact that the power-law index for the size distribution of asteroids with diameters smaller than 25 km in the main belt is larger than the power-law indices for the size distributions of asteroids in the families. This segregation due to the asteroid size can be caused by a drag force caused by the ambient matter deposited on the invariable place of the solar system during the early evolutionary stage. (author)

Effect of pneumatic compressing powered orthosis in stroke patients: preliminary study.

Science.gov (United States)

Kim, Eun Sil; Yoon, Yong-Soon; Sohn, Min Kyun; Kwak, Soo-Hyun; Choi, Jong Ho; Oh, Ji Sun

2015-04-01

To evaluate the feasibility and effectiveness of a knee-ankle-foot orthosis powered by artificial pneumatic muscles (PKAFO). Twenty-three hemiplegic patients (age, 59.6±13.7 years) were assessed 19.7±36.6 months after brain lesion. The 10-m walking time was measured as a gait parameter while the individual walked on a treadmill. Walking speed (m/s), step cycle (cycle/s), and step length (m) were also measured on a treadmill with and without PKAFO, and before and after gait training. Clinical parameters measured before and after gait training included Korean version of Modified Bathel Index (K-MBI), manual muscle test (MMT), and Modified Ashworth Scale (MAS) of hemiplegic ankle. Gait training comprised treadmill walking for 20 minutes, 5 days a week for 3 weeks at a comfortable speed. The 10-m walking time, walking speed, step length, and step cycle were significantly greater with PKAFO than without PKAFO, and after gait training (both p<0.05). K-MBI was improved after gait training (p<0.05), but MMT and MAS were not. PKAFO may improve gait function in hemiplegic patients. It can be a useful orthosis for gait training in hemiplegic patients.

Modelling the effects of penetrance and family size on rates of sporadic and familial disease.

Science.gov (United States)

Al-Chalabi, Ammar; Lewis, Cathryn M

2011-01-01

Many complex diseases show a diversity of inheritance patterns ranging from familial disease, manifesting with autosomal dominant inheritance, through to simplex families in which only one person is affected, manifesting as apparently sporadic disease. The role of ascertainment bias in generating apparent patterns of inheritance is often overlooked. We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality. We develop a mathematical model of familiality of disease, with parameters for penetrance, mutation frequency and family size, and test this in a complex disease: amyotrophic lateral sclerosis. Monogenic, high-penetrance variants can explain patterns of inheritance in complex diseases and account for a large proportion of those with no apparent family history. With current demographic trends, rates of familiality will drop further. For example, a variant with penetrance 0.5 will cause apparently sporadic disease in 12% of families of size 10, but 80% of families of size 1. A variant with penetrance 0.9 has only an 11% chance of appearing sporadic in families of a size similar to those of Ireland in the past, compared with 57% in one-child families like many in China. These findings have implications for genetic counselling, disease classification and the design of gene-hunting studies. The distinction between familial and apparently sporadic disease should be considered artificial. Copyright © 2011 S. Karger AG, Basel.

A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis.

Science.gov (United States)

Bordbar, Mohammad Reza; Modarresi, Farzaneh; Farazi Fard, Mohammad Ali; Dastsooz, Hassan; Shakib Azad, Nader; Faghihi, Mohammad Ali

2017-05-03

Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis. Therefore, genes involved in these steps play important roles in the pathogenesis of HLH disease which include PRF1, UNC13D (MUNC13-4), STX11, and STXBP2 (MUNC18-2). Here, we report a novel missense mutation in an 8-year-old boy suffered from hepatosplenomegaly, hepatitis, epilepsy and pancytopenia. The patient was born to a first-cousin parents with no previous documented disease in his parents. To identify mutated gene in the proband, Whole Exome Sequencing (WES) utilizing next generation sequencing was used on an Illumina HiSeq 2000 platform on DNA sample from the patient. Results showed a novel deleterious homozygous missense mutation in PRF1 gene (NM_001083116: exon3: c. 1120 T > G, p.W374G) in the patient and then using Sanger sequencing it was confirmed in the proband and his parents. Since his parents were heterozygous for the identified mutation, autosomal recessive pattern of inheritance was confirmed in the family. Our study identified a rare new pathogenic missense mutation in PRF1 gene in patient with HLH disease and it is the first report of mutation in PRF1 in Iranian patients with this disease.

The Changing Family in a Changing World: America First?

Science.gov (United States)

Bronfenbrenner, Urie

1984-01-01

The American family has experienced rapid and radical changes since World War II. The effects and possible causes of the increase in the number of single-parent families, entry of mothers into the labor force, and rise in number of families at the poverty level are explored. Implications for changes in policy and practice are discussed. (DF)

Genetic anticipation in Swedish Lynch syndrome families

DEFF Research Database (Denmark)

von Salomé, Jenny; Boonstra, Philip S; Karimi, Masoud

2017-01-01

Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have......-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2...... families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age...

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Science.gov (United States)

Snow, A K; Tuohy, T M F; Sargent, N R; Smith, L J; Burt, R W; Neklason, D W

2015-10-01

Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome caused by mutations in the adenomatous polyposis coli (APC) gene. Clinical genetic testing fails to identify disease causing mutations in up to 20% of clinically apparent FAP cases. Following the inclusion of multiplex ligation-dependent probe amplification (MLPA) probes specific for APC promoter 1B, seven probands were identified with a deletion of promoter 1B. Using haplotype analysis spanning the APC locus, the seven families appear to be identical by descent from a common founder. The clinical phenotype of 19 mutation carriers is classical FAP with colectomy at an average age of 24. The majority of cases had a large number of duodenal and gastric polyps. Measurements of allele-specific expression of APC mRNA using TaqMan assay confirmed that relative expression in the allele containing the promoter 1B deletion was reduced 42-98%, depending on tissue type. This study confirms the importance of APC promoter deletions as a cause of FAP and identifies a founder mutation in FAP patients from the United States. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

NARCIS (Netherlands)

Durst, R.; Colombo, R.; Shpitzen, S.; Avi, L. B.; Friedlander, Y.; Wexler, R.; Raal, F. J.; Marais, D. A.; Defesche, J. C.; Mandelshtam, M. Y.; Kotze, M. J.; Leitersdorf, E.; Meiner, V.

2001-01-01

G197del is the most prevalent LDL receptor (LDLR) mutation causing familial hypercholesterolemia (FH) in Ashkenazi Jew (AJ) individuals. The purpose of this study was to determine the origin, age, and population distribution of G197del, as well as to explore environmental and genetic effects on

Four cases of bladder exstrophy in two families

NARCIS (Netherlands)

Messelink, E. J.; Aronson, D. C.; Knuist, M.; Heij, H. A.; Vos, A.

1994-01-01

Bladder exstrophy is a rare congenital anomaly, caused by abnormal development of the cloacal membrane. To our knowledge, 18 familial patients with this malformation have been described. Two sets of familial cases with bladder exstrophy are reported here: two cousins and a mother and son and the

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

Science.gov (United States)

Gurbuz, F; Desai, S; Diao, F; Turkkahraman, D; Wranitz, F; Wood-Trageser, M; Shin, Y-H; Kotan, L D; Jiang, H; Witchel, S; Gurtunca, N; Yatsenko, S; Mysliwec, D; Topaloglu, K; Rajkovic, A

2018-04-01

Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic variants have been largely reported in the Middle Eastern populations, but the incidence in American families is rare and animal models are lacking. Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*). A mouse model mimicking loss of function in exon 2 of Dcaf17 was generated using CRISPR/Cas9 and showed female subfertility and male infertility. Our results identify 2 novel variants, and show that Dcaf17 plays a significant role in mammalian gonadal development and infertility. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

Science.gov (United States)

Cloarec, Robin; Bruneau, Nadine; Rudolf, Gabrielle; Massacrier, Annick; Salmi, Manal; Bataillard, Marc; Boulay, Clotilde; Caraballo, Roberto; Fejerman, Natalio; Genton, Pierre; Hirsch, Edouard; Hunter, Alasdair; Lesca, Gaetan; Motte, Jacques; Roubertie, Agathe; Sanlaville, Damien; Wong, Sau-Wei; Fu, Ying-Hui; Rochette, Jacques; Ptáček, Louis J.

2012-01-01

ABSTRACT Objective: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported. In order to explore the mutational and clinical spectra, we analyzed 34 additional families with either typical PKD/IC or PKD/IC with migraine. Methods: We performed Sanger sequencing of all PRRT2 coding exons and of exon-intron boundaries in the probands and in their relatives whenever appropriate. Results: Two known and 2 novel PRRT2 mutations were detected in 18 families. The p.R217Pfs*8 recurrent mutation was found in ≈50% of typical PKD/IC, and the unreported p.R145Gfs*31 in one more typical family. PRRT2 mutations were also found in PKD/IC with migraine: p.R217Pfs*8 cosegregated with PKD associated with HM in one family, and was also detected in one IC patient having migraine with aura, in related PKD/IC familial patients having migraine without aura, and in one sporadic migraineur with abnormal MRI. Previously reported p.R240X was found in one patient with PKD with migraine without aura. The novel frameshift p.S248Afs*65 was identified in a PKD/IC family member with IC and migraine with aura. Conclusions: We extend the spectrum of PRRT2 mutations and phenotypes to HM and to other types of migraine in the context of PKD/IC, and emphasize the phenotypic pleiotropy seen in patients with PRRT2 mutations. PMID:23077017

[Family Health. La Salud de la Familia.

Science.gov (United States)

Moreno, Steve

These three booklets on family and child health are part of a series of 22 booklets specifically designed to help parents understand their children and help them to learn. "The Effects of Stress on Parents and Family Life" (booklet #17), covers issues such as causes and effects of stress, stress and our modern society, and coping with…

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Directory of Open Access Journals (Sweden)

Yaser Mohammad Alkhiary

2016-09-01

Full Text Available Papillon–Lefevre syndrome (PALS is a rare, autosomal recessive disorder characterized by periodontitis and hyperkeratosis over the palms and soles. Mutations in the cathepsin C gene (CTSC have been recognized as the cause of PALS since the late 1990s. More than 75 mutations in CTSC have been identified, and phenotypic variability between different mutations has been described. Next generation sequencing is widely used for efficient molecular diagnostics in various clinical practices. Here we investigated a large consanguineous Saudi family with four affected and four unaffected individuals. All of the affected individuals suffered from hyperkeratosis over the palms and soles and had anomalies of both primary and secondary dentition. For molecular diagnostics, we combined whole-exome sequencing and genome-wide homozygosity mapping procedures, and identified a recurrent homozygous missense mutation (c.899G>A; p.Gly300Asp in exon 7 of CTSC. Validation of all eight family members by Sanger sequencing confirmed co-segregation of the pathogenic variant (c.899G>A with the disease phenotype. This is the first report of whole-exome sequencing performed for molecular diagnosis of PALS in Saudi Arabia. Our findings provide further insights into the genotype–phenotype correlation of CTSC pathogenicity in PALS.

A new mutation causing autosomal dominant periodic fever syndrome in a Danish family

DEFF Research Database (Denmark)

Weyhreter, Heike; Schwartz, Marianne; Kristensen, Tim D

2003-01-01

We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined...

Adolescents' perception of causes of obesity: unhealthy lifestyles or heritage?

Science.gov (United States)

Gonçalves, Helen; González, David A; Araújo, Cora P; Muniz, Ludmila; Tavares, Patrícia; Assunção, Maria C; Menezes, Ana M B; Hallal, Pedro C

2012-12-01

To evaluate adolescents' perception of the causes of obesity, with emphasis on differences according to nutritional status and socioeconomic position. We conducted qualitative research including 80 adolescents belonging to the 1993 Pelotas (Brazil) Birth Cohort Study, and their mothers. We classified adolescent boys and girls into four groups (girls-obese, girls-eutrophic, boys-obese, and boys-eutrophic) according to body mass index for age and sex, and systematically selected them according to family income at age 15 years. Research techniques included semistructured interviews and history of life. Topics covered in the interviews included early experiences with weight management, effect of weight on social relationships, family history, eating habits, and values. Low-income obese adolescents and their mothers perceive obesity as a heritage, caused by family genes, side effects of medication use, and stressful life events. However, low-income eutrophic adolescents emphasize the role of unhealthy diets on obesity development. Among the high-income adolescents, those who are obese attribute it to genetic factors and emotional problems, whereas those who are eutrophic mention unhealthy diets and lack of physical activity as the main causes of obesity. Perceptions of the causes of obesity in adolescents from a middle-income setting vary by gender, socioeconomic position, and nutritional status. Whereas some blame genetics as responsible for obesity development, others blame unhealthy diets and lifestyles, and others acknowledge the roles of early life experiences and family traditions in the process of obesity development. Copyright © 2012 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

[Work-family conflict in call center].

Science.gov (United States)

Ghislieri, Chiara; Ricotta, Simona; Colombo, Lara

2012-01-01

The working environment of call centers, which have seen a significant growth in recent years, has been the subject of several studies aiming at understanding its specific dynamics, with particular attention to the possible causes of stress and discomfort. Despite the fact that the work-family conflict is considered a source of stress responsible for undermining workers' well-being, and as such has been explored in many work environments, there is still very little research specific to call centers. This study had the following aims: to explore work-family conflict perceived by call-center operators taking account of any differences related to respondents'professional and personal characteristics; to understand which demands and resources can have an impact on work-family conflict in this context. The study was carried out on a sample of 898 call center operators in a telecommunications company through the administration of a self-reporting questionnaire. Data analysis included: t-test, one-way analysis of variance, linear correlations and multiple regressions. A higher perception of work-family conflict among workers having a full-time contract was observed compared to those having part-time contracts. Multiple regression analysis identified as sources of influence on work-family conflict: emotional dissonance, uneasiness due customer dissatisfaction, workload, avoidance coping and working hours. Work-family conflict in the context studied is not particularly critical: it is in part influenced by professional and personal characteristics of respondents and primarily caused by work demands. Managerial implications are discussed, especially referred to training activities.

Shoulder pain in hemiplegia.

Science.gov (United States)

Andersen, L T

1985-01-01

Development of a painful shoulder in the hemiplegic patient is a significant and serious problem, because it can limit the patient's ability to reach his or her maximum functional potential. Several etiologies of shoulder pain have been identified, such as immobilization of the upper extremity, trauma to the joint structures, including brachial plexus injuries, and subluxation of the gleno-humeral joint. A review of the literature explains the basic anatomy and kinesiology of the shoulder complex, the various etiologies of hemiplegic shoulder pain, and the pros and cons of specific treatment techniques. This knowledge is essential for the occupational therapist to evaluate effectively techniques used to treat the patient with hemiplegic shoulder pain. More effective management of this problem will facilitate the patient's ability to reach his or her maximum functional potential.

The Effectiveness of “Bowen’s Family System Therapy” on Differentiation and the Functions of Families with Addicted Child

Directory of Open Access Journals (Sweden)

Fatemeh Ghaffari

2010-02-01

Full Text Available Objective: The purpose of this study was to investigate the effectiveness of Bowen’s Family System therapy on increasing of differentiation and improving of family function in families with addicted children. Method: The research design of this research was semi experimental design namely: pre test-post test with witness group. The sample was selected voluntarily among referred bachelor addicts and their family members in 4 therapeutic centers, and divided to experimental (5families with 4 members, and witness groups (5families with 4 members, randomly. The experimental group was under training on the basis of Bowen’s family system therapy in 8 sessions. Each session was done for 2 hours. The witness group was under standard treatment of national protocols of Ministry and Health and Social Welfare Organization. The differentiation questionnaire and family function assessment were administered among two groups. Results: The result showed that Bowen’s Family System therapy increased differentiation and improved the function of addicted persons and their families. Conclusion: The addicted persons and their families have low differentiation that can be caused to family dysfunction. Bowen’s Family System therapy can be useful in this purpose.

Genetic Causes of Putative Autosomal Recessive Intellectual Disability Cases in Hamedan Province

Directory of Open Access Journals (Sweden)

Milad Bastami

2012-04-01

Full Text Available Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamadan province. Families were included a total of 60 patients (39 male and 21 female whose intellectual disability had been confirmed by Raven IQ test. Each family was asked for clinical examination and getting consent form. Blood sample was collected from each family. One proband from each family was tested for CGG repeat expansion in FMR1 gene, chromosomal abnormalities and inborn errors of metabolism. We also performed homozygosity mapping based on STR markers for seven known MCPH loci in families with primary microcephaly and AR-ID. Results: Five families had full mutation of Fragile X syndrome. No chromosomal abnormalities were identified. Metabolic screening revealed one family with Medium Chain Acyl CoA Dehydrogenase deficiency. None of three families with primary microcephaly and AR-ID showed linkage to any of known seven MCPH loci. Conclusion: The main causes of ID in Hamadan province were Fragile X syndrome and Autosomal Recessive Primary Microcephaly with the frequencies of 20% and 12%, respectively.

Systemic allergic dermatitis caused by sesquiterpene lactones

DEFF Research Database (Denmark)

Paulsen, Evy

2017-01-01

Patients with Compositae sensitization are routinely warned against the ingestion of vegetables, spices, teas and herbal remedies from this family of plants. The evidence for the occurrence of systemic allergic dermatitis caused by sesquiterpene lactone-containing plants is mostly anecdotal...

The impact of partnership in the management of family businesses

Directory of Open Access Journals (Sweden)

Janja Škedelj

2016-02-01

Full Text Available Purpose and Originality: The purpose of the survey is to examine and understand interpersonal relationships and their impact on the quality of governance in family businesses. The aim is to present interpersonal relationships in family businesses, their causes and impact on the quality of management. Method: The aim of the article will review and presentation of interpersonal relationships in family businesses, their causes and impacts on the quality of work. We will present the positive and negative factors of interpersonal relationships and the causes of the conflict. Results: In establishing good interpersonal relationships have a major impact in the parent organization. For good result is important both mutual cooperation as well as a good flow of information. Limitations/Future Research: In any family business, they are aware that they are regulated interpersonal relations are important for the success of the organization. In this article, we will limit ourselves to interpersonal relationships and how they affect the quality of work in the organization. Restrictions only be seen in the insufficient amount of practical experience in this field of research

Effect of family counsellling on psychological distress among ...

African Journals Online (AJOL)

Background: Sickle Cell Anaemia (SCA) is a haematological disorder of red blood cells, caused by mutation in the beta globin gene. Caring for patients with the disorder poses a significant psychological burden on the sufferers, the caregivers and their families, thereby affecting their quality of life. Family counselling has ...

An investigation of family environmental alteration affecting short-term recovery from Schizophrenia in China.

Science.gov (United States)

Rong-Min Chen, R M

1995-02-01

It has been hypothesised that change in the family environment affects short-term recovery from schizophrenia. Observation and study of 210 schizophrenic patients who were influenced by family environmental alteration show that the prognosis of schizophrenia caused suddenly by family environmental alteration is better than that of schizophrenia caused by a persistently unfavourable family environment. Hence, we think sudden family environmental alterations do not cause psychorrhoea, but slow family environmental alteration may cause change in the mental state of patients. The prognosis is worse in the countryside than in the city. From the study group, we conclude that the first cure rate was 28%, and that 26% of patients were able to work. This indicates that there were no typical cases of the core pattern of schizophrenia, and that there was a certain potential for recovery. In the future, the emphasis of prevention and treatment must be placed on the countryside, and attention should be paid to the improvement of living and working conditions there, to the correct administration of patients, and to the improvement of recovery measures and therapy. We advocate that efforts should be made in the countryside to raise the national educational and cultural level.

The genetic landscape of familial congenital hydrocephalus.

Science.gov (United States)

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

Two family members with a syndrome of headache and rash caused by human parvovirus B19

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Antonio Carlos M. Pereira

Full Text Available Human parvovirus B19 infection can cause erythema infectiosum (EI and several other clinical presentations. Central nervous system (CNS involvement is rare, and only a few reports of encephalitis and aseptic meningitis have been published. Here, we describe 2 cases of B19 infection in a family presenting different clinical features. A 30 year old female with a 7-day history of headache, malaise, myalgias, joint pains, and rash was seen. Physical examination revealed a maculopapular rash on the patient's body, and arthritis of the hands. She completely recovered in 1 week. Two days before, her 6 year old son had been admitted to a clinic with a 1-day history of fever, headache, abdominal pain and vomiting. On admission, he was alert, and physical examination revealed neck stiffness, Kerning and Brudzinski signs, and a petechial rash on his trunk and extremities. Cerebrospinal fluid analysis was normal. He completely recovered in 5 days. Acute and convalescent sera of both patients were positive for specific IgM antibody to B19. Human parvovirus B19 should be considered in the differential diagnosis of aseptic meningitis, particularly during outbreaks of erythema infectiosum. The disease may mimic meningococcemia and bacterial meningitis.

Neonatal stroke causes poor midline motor behaviors and poor fine and gross motor skills during early infancy.

Science.gov (United States)

Chen, Chao-Ying; Lo, Warren D; Heathcock, Jill C

2013-03-01

Upper extremity movements, midline behaviors, fine, and gross motor skills are frequently impaired in hemiparesis and cerebral palsy. We investigated midline toy exploration and fine and gross motor skills in infants at risk for hemiplegic cerebral palsy. Eight infants with neonatal stroke (NS) and thirteen infants with typical development (TD) were assessed from 2 to 7 months of age. The following variables were analyzed: percentage of time in midline and fine and gross motor scores on the Bayley Scales of Infant Development (BSID-III). Infants with neonatal stroke demonstrated poor performance in midline behaviors and fine and gross motor scores on the BSID-III. These results suggest that infants with NS have poor midline behaviors and motor skill development early in infancy. Copyright © 2012 Elsevier Ltd. All rights reserved.

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Science.gov (United States)

Pastor, Victor B; Sahoo, Sushree S; Boklan, Jessica; Schwabe, Georg C; Saribeyoglu, Ebru; Strahm, Brigitte; Lebrecht, Dirk; Voss, Matthias; Bryceson, Yenan T; Erlacher, Miriam; Ehninger, Gerhard; Niewisch, Marena; Schlegelberger, Brigitte; Baumann, Irith; Achermann, John C; Shimamura, Akiko; Hochrein, Jochen; Tedgård, Ulf; Nilsson, Lars; Hasle, Henrik; Boerries, Melanie; Busch, Hauke; Niemeyer, Charlotte M; Wlodarski, Marcin W

2018-03-01

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1-42). All patients presented with thrombocytopenia with or without additional cytopenias and a hypocellular marrow without an increase of blasts. Genomic studies identified constitutional mutations (p.H880Q, p.R986H, p.R986C and p.V1512M) in the SAMD9L gene on 7q21, with decreased allele frequency in hematopoiesis. The non-random loss of mutated SAMD9L alleles was attained via monosomy 7, deletion 7q, UPD7q, or acquired truncating SAMD9L variants p.R1188X and p.S1317RfsX21. Incomplete penetrance was noted in 30% (3/10) of mutation carriers. Long-term observation revealed divergent outcomes with either progression to leukemia and/or accumulation of driver mutations (n=2), persistent monosomy 7 (n=4), and transient monosomy 7 followed by spontaneous recovery with SAMD9L -wildtype UPD7q (n=2). Dysmorphic features or neurological symptoms were absent in our patients, pointing to the notion that myelodysplasia with monosomy 7 can be a sole manifestation of SAMD9L disease. Collectively, our results define a new subtype of familial myelodysplastic syndrome and provide an explanation for the phenomenon of transient monosomy 7. Registered at: www.clinicaltrials.gov; #NCT00047268 . Copyright© 2018 Ferrata Storti Foundation.

Acculturative family distancing (AFD) and depression in Chinese American families.

Science.gov (United States)

Hwang, Wei-Chin; Wood, Jeffrey J; Fujimoto, Ken

2010-10-01

Knowledge of acculturative processes and their impact on immigrant families remains quite limited. Acculturative family distancing (AFD) is the distancing that occurs between immigrant parents and their children and is caused by breakdowns in communication and cultural value differences. It is a more proximal and problem-focused formulation of the acculturation gap and is hypothesized to increase depression via family conflict. Data were collected from 105 Chinese American high school students and their mothers. Rasch modeling was used to refine the AFD measure, and structural equation modeling was used to determine the effects of AFD on youth and maternal depression. Findings indicate that greater AFD was associated with higher depressive symptoms and risk for clinical depression. Family conflict partially mediated this relation for youths, whereas for mothers, AFD directly increased risk for depression. Greater mother-child heritage enculturation discrepancies were associated with greater mother and child AFD. Mainstream acculturation discrepancies and language gaps between mothers and youths were not significantly associated with any of the primary outcome variables. Results highlight the need for better understanding of how AFD and other acculturation-gap phenomena affect immigrant mental health. They also underscore the need for prevention and intervention programs that target communication difficulties and intergenerational cultural value differences. Copyright 2010 APA, all rights reserved.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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Huang Lijia

2012-09-01

Full Text Available Abstract Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family. Methods and Results Exome sequencing was performed for the Australian family, resulting in the identification of a heterozygous mutation in the ITPR1 gene. For the Canadian family, genotyping with microsatellite markers and Sanger sequencing of ITPR1 gene were performed; a heterozygous missense mutation in ITPR1 was identified. Conclusions ITPR1 encodes inositol 1,4,5-trisphosphate receptor, type 1, a ligand-gated ion channel that mediates calcium release from the endoplasmic reticulum. Deletions of ITPR1 are known to cause spinocerebellar ataxia type 15, a distinct and very slowly progressive form of cerebellar ataxia with onset in adulthood. Our study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressive ataxia; highlighting important clinical heterogeneity associated with the ITPR1 gene and a significant role of the ITPR1-related pathway in the development and maintenance of the normal functions of the cerebellum.

Pilot study on quantitative assessment of muscle imbalance: differences of muscle synergies, equilibrium-point trajectories, and endpoint stiffness in normal and pathological upper-limb movements.

Science.gov (United States)

Oku, Takanori; Uno, Kanna; Nishi, Tomoki; Kageyama, Masayuki; Phatiwuttipat, Pipatthana; Koba, Keitaro; Yamashita, Yuto; Murakami, Kenta; Uemura, Mitsunori; Hirai, Hiroaki; Miyazaki, Fumio; Naritomi, Hiroaki

2014-01-01

This paper proposes a novel method for assessment of muscle imbalance based on muscle synergy hypothesis and equilibrium point (EP) hypothesis of motor control. We explain in detail the method for extracting muscle synergies under the concept of agonist-antagonist (AA) muscle pairs and for estimating EP trajectories and endpoint stiffness of human upper limbs in a horizontal plane using an electromyogram. The results of applying this method to the reaching movement of one normal subject and one hemiplegic subject suggest that (1) muscle synergies (the balance among coactivation of AA muscle pairs), particularly the synergies that contributes to the angular directional kinematics of EP and the limb stiffness, are quite different between the normal subject and the hemiplegic subject; (2) the concomitant EP trajectory is also different between the normal and hemiplegic subjects, corresponding to the difference of muscle synergies; and (3) the endpoint (hand) stiffness ellipse of the hemiplegic subject becomes more elongated and orientation of the major axis rotates clockwise more than that of the normal subject. The level of motor impairment would be expected to be assessed from a comparison of these differences of muscle synergies, EP trajectories, and endpoint stiffness among normal and pathological subjects using the method.

Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

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Sorge, Shawn T; Hesdorffer, Dale C; Phelan, Jo C; Winawer, Melodie R; Shostak, Sara; Goldsmith, Jeff; Chung, Wendy K; Ottman, Ruth

2016-10-01

Rapid advances in genetic research and increased use of genetic testing have increased the emphasis on genetic causes of epilepsy in patient encounters. Research in other disorders suggests that genetic causal attributions can influence patients' psychological responses and coping strategies, but little is known about how epilepsy patients and their relatives will respond to genetic attributions of epilepsy. We investigated the possibility that among members of families containing multiple individuals with epilepsy, depression, the most frequent psychiatric comorbidity in the epilepsies, might be related to the perception that epilepsy has a genetic cause. A self-administered survey was completed by 417 individuals in 104 families averaging 4 individuals with epilepsy per family. Current depression was measured with the Patient Health Questionnaire. Genetic causal attribution was assessed by three questions addressing the following: perceived likelihood of having an epilepsy-related mutation, perceived role of genetics in causing epilepsy in the family, and (in individuals with epilepsy) perceived influence of genetics in causing the individual's epilepsy. Relatives without epilepsy were asked about their perceived chance of developing epilepsy in the future, compared with the average person. Prevalence of current depression was 14.8% in 182 individuals with epilepsy, 6.5% in 184 biologic relatives without epilepsy, and 3.9% in 51 individuals married into the families. Among individuals with epilepsy, depression was unrelated to genetic attribution. Among biologic relatives without epilepsy, however, prevalence of depression increased with increasing perceived chance of having an epilepsy-related mutation (p = 0.02). This association was not mediated by perceived future epilepsy risk among relatives without epilepsy. Depression is associated with perceived likelihood of carrying an epilepsy-related mutation among individuals without epilepsy in families containing

Exome sequencing in a family segregating for celiac disease

NARCIS (Netherlands)

Szperl, A M; Ricaño-Ponce, I; Li, J K; Deelen, P; Kanterakis, A; Plagnol, V; van Dijk, Freerk; Westra, H J; Trynka, G; Mulder, C. J.; Swertz, M; Wijmenga, Cisca; Zheng, H C H

Celiac disease is a multifactorial disorder caused by an unknown number of genetic factors interacting with an environmental factor. Hence, most patients are singletons and large families segregating with celiac disease are rare. We report on a three-generation family with six patients in which the

Psychoeducation Interventions in Families of Patients with Schizophrenia

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Filipe Reis

2014-10-01

Full Text Available The studies in expressed emotions allowed establishing a pattern in educational and psychoeducative interventions within the families of schizophrenic patients. In this paper, the author synthesises his research developed in expressed emotions of the chronic patient's relatives. The author refers the importance of the relative's cognitive variables about mental representation of the patient and his disease. These variables are studied through the attributions made about the patient's personality and causes of disease. Other cognitive variables are analysed, relying to the conceptualisation in family psycho educative intervention, such as, transactional games, family conflicts and parental relationship style. The evaluation of the relatives and families is considered as being part of the process of family psycho-educative intervention.

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

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Hennekam Raoul

2008-06-01

Full Text Available Abstract Background Genetic factors make an important contribution to the aetiology of congenital talipes equinovarus (CTEV, the most common developmental disorder of the lower limb. WNT7A was suggested as a candidate gene for CTEV on the basis of a genome-wide scan for linkage in a large multi-case family. WNT7A is a plausible candidate gene for CTEV as it provides a signal for pattern formation during limb development, and mutation in WNT7A has been reported in a number of limb malformation syndromes. Methods We investigated the role of WNT7A using a family-based linkage approach in our large series of European multi-case CTEV families. Three microsatellite markers were used, of which one (D3S2385 is intragenic, and the other two (D3S2403, D3S1252 are 700 kb 5' to the start and 20 kb from the 3' end of the gene, respectively. Ninety-one CTEV families, comprising 476 individuals of whom 211 were affected, were genotyped. LOD scores using recessive and incomplete-dominant inheritance models, and non-parametric linkage scores, excluded linkage. Results No significant evidence for linkage was observed using either parametric or non-parametric models. LOD scores for the parametric models remained strongly negative in the regions between the markers, and in the 0.5 cM intervals outside the marker map. No significant lod scores were obtained when the data were analysed allowing for heterogeneity. Conclusion Our evidence suggests that the WNT7A gene is unlikely to be a major contributor to the aetiology of familial CTEV.

FAM20A mutations can cause enamel-renal syndrome (ERS.

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Shih-Kai Wang

Full Text Available Enamel-renal syndrome (ERS is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS, which closely resembles ERS except for the renal calcifications. We characterized three families with AIGFS and identified, in each case, recessive FAM20A mutations: family 1 (c.992G>A; g.63853G>A; p.Gly331Asp, family 2 (c.720-2A>G; g.62232A>G; p.Gln241_Arg271del, and family 3 (c.406C>T; g.50213C>T; p.Arg136* and c.1432C>T; g.68284C>T; p.Arg478*. Significantly, a kidney ultrasound of the family 2 proband revealed nephrocalcinosis, revising the diagnosis from AIGFS to ERS. By characterizing teeth extracted from the family 3 proband, we demonstrated that FAM20A(-/- molars lacked true enamel, showed extensive crown and root resorption, hypercementosis, and partial replacement of resorbed mineral with bone or coalesced mineral spheres. Supported by the observation of severe ectopic calcifications in the kidneys of Fam20a null mice, we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes, and that mutations in FAM20A cause both AIGFS and ERS.

Family violence in Addis Ababa: Challenges of reconciling culture ...

African Journals Online (AJOL)

Family violence includes physical, psychological and sexual violations such as pinching, beating, hitting, scolding, yelling and coerced sex. Wife beating and child corporal punishment are major family/domestic violence in Ethiopia. This study focused on wife beating (battering). It has attempted to find out the main causes ...

Similar phenotypes caused by mutations in OTOG and OTOGL

Science.gov (United States)

Oonk, Anne M.M.; Leijendeckers, Joop M.; Huygen, Patrick L.M.; Schraders, Margit; del Campo, Miguel; del Castillo, Ignacio; Tekin, Mustafa; Feenstra, Ilse; Beynon, Andy J.; Kunst, Henricus P.M.; Snik, Ad F.M.; Kremer, Hannie; Admiraal, Ronald J.C.; Pennings, Ronald J.E.

2013-01-01

Objectives recently, OTOG and OTOGL were identified as human deafness genes. Currently, only four families are known to have autosomal recessive hearing loss based on mutations in these genes. Since the two genes code for proteins (otogelin and otogelin-like) that are strikingly similar in structure and localization in the inner ear, this study is focused on characterizing and comparing the hearing loss caused by mutations in these genes. Design To evaluate this type of hearing, an extensive set of audiometric and vestibular examinations was performed in the 13 patients from four families. Results all families show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good (>90%). Hearing loss is not significantly different in the four families and the psychophysical test results also do not differ between the families. Vestibular examinations show evidence for vestibular hyporeflexia. Conclusion since otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. Results of psychophysical examinations, however, do not support this. Furthermore, the authors can conclude that there are no phenotypic differences between hearing loss based on mutations in OTOG or OTOGL. This phenotype description will facilitate counseling of hearing loss caused by defects in either of these two genes. PMID:24378291

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

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Guan, Bin; Welch, James M; Sapp, Julie C; Ling, Hua; Li, Yulong; Johnston, Jennifer J; Kebebew, Electron; Biesecker, Leslie G; Simonds, William F; Marx, Stephen J; Agarwal, Sunita K

2016-11-03

Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP. Selected rare variants were assessed for co-segregation in affected family members and screened for in an additional 32 kindreds with FIHP. In eight kindreds with FIHP, we identified three rare missense variants in GCM2, a gene encoding a transcription factor required for parathyroid development. Functional characterization of the GCM2 variants and deletion analyses revealed a small C-terminal conserved inhibitory domain (CCID) in GCM2. Two of the three rare variants were recurrent, located in the GCM2 CCID, and found in seven of the 40 (18%) kindreds with FIHP. These two rare variants acted as gain-of-function mutations that increased the transcriptional activity of GCM2, suggesting that GCM2 is a parathyroid proto-oncogene. Our results demonstrate that germline-activating mutations affecting the CCID of GCM2 can cause FIHP. Published by Elsevier Inc.

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

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Chen, Kaitian; Zhan, Yuan; Wu, Xuan; Zong, Ling; Jiang, Hongyan

2018-01-01

Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed. The two probands were found to share double mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg syndrome phenotype, was observed in either parent. These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. To our knowledge, this is the first report describing germinal mosaicism in Waardenburg syndrome. This concept is important because it complicates genetic counseling of this family regarding the risk of recurrence of the mutations in subsequent pregnancies. Copyright © 2017 Elsevier B.V. All rights reserved.

Family Structure and Youths' Outcomes.

Science.gov (United States)

Painter, Gary; Levine, David I.

2000-01-01

National Education Longitudinal Study data were used to examine whether parents' divorce/remarriage or existing family disadvantages caused such outcomes as teens' lower educational attainment or higher rates of parenthood. Neither divorce nor remarriage during a youth's high school years was strongly correlated with preexisting characteristics of…

Branch migration and the international dispersal of families.

Science.gov (United States)

Parr, N; Lucas, D; Mok, M

2000-01-01

This paper discusses the dispersal of facilities where family members migrate to different destination countries. Terminology for internationally dispersed families is proposed, and the term branch migration is suggested for the migration of related people from the same source country to different destination countries. Data from two 1993 surveys of senior secondary students show that 22% of Sydney students and 20% of Hong Kong students have relatives in two or more other countries. The data suggest that many Asian migrant families have branched between the US, Canada, Australia and other migrant-receiving nations. The causes and implications of the international dispersal of families are discussed.

Family-Based Approaches to Cardiovascular Health Promotion.

Science.gov (United States)

Vedanthan, Rajesh; Bansilal, Sameer; Soto, Ana Victoria; Kovacic, Jason C; Latina, Jacqueline; Jaslow, Risa; Santana, Maribel; Gorga, Elio; Kasarskis, Andrew; Hajjar, Roger; Schadt, Eric E; Björkegren, Johan L; Fayad, Zahi A; Fuster, Valentin

2016-04-12

Cardiovascular disease is the leading cause of mortality in the world, and the increasing burden is largely a consequence of modifiable behavioral risk factors that interact with genomics and the environment. Continuous cardiovascular health promotion and disease prevention throughout the lifespan is critical, and the family is a central entity in this process. In this review, we describe the potential rationale and mechanisms that contribute to the importance of family for cardiovascular health promotion, focusing on: 1) mutual interdependence of the family system; 2) shared environment; 3) parenting style; 4) caregiver perceptions; and 5) genomics. We conclude that family-based approaches that target both caregivers and children, encourage communication among the family unit, and address the structural and environmental conditions in which families live and operate are likely to be the most effective approach to promote cardiovascular health. We describe lessons learned, future implications, and applications to ongoing and planned studies. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

Family pediatrics: report of the Task Force on the Family.

Science.gov (United States)

Schor, Edward L

2003-06-01

their basic needs. Children's needs for which only a family can provide include social support, socialization, and coping and life skills. Their self-esteem grows from being cared for, loved, and valued and feeling that they are part of a social unit that shares values, communicates openly, and provides companionship. Families transmit and interpret values to their children and often serve as children's connection to the larger world, especially during the early years of life. Although schools provide formal education, families teach children how to get along in the world. Often, efforts to discuss families and make recommendations regarding practice or policy stumble over disagreements about the definition of a family. The task force recognized the diversity of families and chose not to operate from the position of a fixed definition. Rather, the task force, which was to address pediatrics, decided to frame its deliberations and recommendations around the functions of families and how various aspects of the family context influence child rearing and child health. One model of family functioning that implicitly guided the task force is the family stress model (Fig 1). Stress of various sorts (eg, financial or health problems, lack of social support, unhappiness at work, unfortunate life events) can cause parents emotional distress and cause couples conflict and difficulty with their relationship. These responses to stress then disrupt parenting and the interactions between parent and child and can lead to short-term or lasting poor outcomes. The earlier these events transpire and the longer that the disruption lasts, the worse the outcomes for children. The task force favors efforts to encourage and support marriage yet recognizes that every family constellation can produce good outcomes for children and that none is certain to yield bad ones. (ABSTRACT TRUNCATED)

Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families

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Mohammad Al-Haggar

2011-01-01

Full Text Available Background. Fanconi-Bickel syndrome (FBS is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2 gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity, and index cases had evidences of proximal renal tubular defects with hepatomegaly; they were subjected to history taking, signs of rickets as well as anthropometric measurements. Laboratory workup included urinalysis, renal and liver function tests including fasting and postprandial blood sugar; serum calcium, phosphorus, alkaline phosphatase, sodium and potassium, lipid profile, and detailed blood gas. Imaging including bone survey and abdominal ultrasound, and liver biopsy were done to confirm diagnosis. Molecular analysis of the GLUT2 gene was done for DNA samples extracted from peripheral blood leukocyte. All coding sequences, including flanking introns in GLUT2 gene, were amplified using PCR followed by direct sequencing. Results. Two new mutations had been detected, one in each family, in exon 3 two bases (GA were deleted (c.253 254delGA and in exon 6 in the second family, G-to-C substitution at position-1 of the splicing acceptor site (c.776-1G>C or IVS5-1G>A. Conclusion. FBS is a rare disease due to mutation in GLUT2 gene; many mutations were reported, about half were novel mutations; yet none of these mutations is more frequent. A more extensive survey for the most frequent mutations among FBS has to be contemplated to allow for use of molecular screening tests like ARMS.

Family structure and eating behavior disorders.

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Mateos-Agut, Manuel; García-Alonso, Isabel; De la Gándara-Martín, Jesús J; Vegas-Miguel, María I; Sebastián-Vega, Carlota; Sanz-Cid, Beatriz; Martínez-Villares, Ana; Martín-Martínez, Esther

2014-01-01

The modern way of life, characterized by the cult of individualism, discredited authority, and a proliferation of points of view about reality, has modified family structure. This social structure imbues families and the way that its members become ill, in such a way that eating behavior disorders (EDs) have become a typically postmodern way of becoming ill. The aim is to understand the systemic structure and vulnerability of families by comparing 108 families with members who have ED to 108 families without pathology. A questionnaire administered by an interview with trained personnel was used. Families with ED have a different structure from the families in the control group. They have more psychiatric history and poor coping skills. The family hierarchy is not clearly defined and the leadership is diffuse, with strict and unpredictable rules, more intergenerational coalitions, and fewer alliances. The relationship between the parents is distant or confrontational, and their attitudes towards their children are complacent and selfish, with ambivalent and unaffectionate bonds. In the case of mothers, this is manifested by separation anxiety and dyadic dependence. Their expectations concerning their offspring are either very demanding and unrealistic, or indifferent, and there is less control of their behavior, in addition to poor organization of the family meals. The structural differences between the two groups of families seem to be important for the occurrence and maintenance of EDs, although they may not be the only cause. The results suggest strategies for clinical intervention in EDs.

Family conflict, emotional security, and child development: translating research findings into a prevention program for community families.

Science.gov (United States)

Cummings, E Mark; Schatz, Julie N

2012-03-01

The social problem posed by family conflict to the physical and psychological health and well-being of children, parents, and underlying family relationships is a cause for concern. Inter-parental and parent-child conflict are linked with children's behavioral, emotional, social, academic, and health problems, with children's risk particularly elevated in distressed marriages. Supported by the promise of brief psycho-educational programs (e.g., Halford et al. in Journal of Family Psychology 22:497-505, 2008; Sanders in Journal of Family Psychology 22:506-517, 2008), the present paper presents the development and evaluation of a prevention program for community families with children, concerned with family-wide conflict and relationships, and building on Emotional Security Theory (Davies and Cummings in Psychological Bulletin 116:387-411, 1994). This program uniquely focuses on translating research and theory in this area into brief, engaging programs for community families to improve conflict and emotional security for the sake of the children. Evaluation is based on multi-domain and multi-method assessments of family-wide and child outcomes in the context of a randomized control design. A series of studies are briefly described in the programmatic development of a prevention program for conflict and emotional security for community families, culminating in a program for family-wide conflict and emotional security for families with adolescents. With regard to this ongoing program, evidence is presented at the post-test for improvements in family-wide functioning, consideration of the relative benefits for different groups within the community, and preliminary support for the theoretical bases for program outcomes.

The Scourge of the Spurge Family-An Imitator of Rhus Dermatitis.

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Huerth, Kimberly A; Hawkes, Jason E; Meyer, Laurence J; Powell, Douglas L

The Euphorbiaceae family (commonly known as "spurge") is a large, diverse, and widely distributed family of plants that encompass around 300 genera and more than 8000 species. Their attractiveness and hearty nature have made them popular for both indoor ornamentation and outdoor landscaping. Despite their ubiquity, the potential to cause irritant contact dermatitis (ICD) is often overlooked in favor of more notorious causes of phytodermatitis, namely, Toxicodendron species and nettles. We examined case reports spanning 40 years and discovered that spurge-induced ICD tends to befall children and middle-aged adults who unwittingly encounter the plant through play or horticulture, respectively. Clinical presentation is pleomorphic. Erythema, edema, burning, vesicles, and pruritus of acute onset and rapid resolution are frequently observed. We present a classic case of ICD in a 12-year-old girl after exposure to Euphorbia myrsinites and review the literature on phytodermatitis caused by members of the Euphorbiaceae family.

The use of DNA markers in the pre-clinical diagnosis of familial ...

African Journals Online (AJOL)

informative or partially informative in all the families studied. Five haplotypes were found to segregate with the disease locus. The predominant association of two of these haplotypes with FAP in the South African families suggests that two mutations may cause the disease in about 70% of families in this population. Meiotic.

Family Structure and Family Processes in Mexican American Families

OpenAIRE

Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

2011-01-01

Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct,...

Causes of schizophrenia reported by urban African American lay community members.

Science.gov (United States)

Compton, Michael T; Esterberg, Michelle L; Broussard, Beth

2008-01-01

Although mental health professionals' "etiologic beliefs" concerning schizophrenia have evolved in accordance with diathesis-stress and neurodevelopmental models, little is known about etiologic attributions in nonclinical general population samples in the United States. Yet, course and outcome for people with the illness may be indirectly influenced by beliefs about causes in the larger community. Because of very limited research in this area, especially among African Americans in particular, this descriptive study investigated the causes of schizophrenia reported by 127 urban African Americans from the general population. The aim of this study was to assess the most commonly reported causes of schizophrenia, as well as the frequency of endorsing items from a list of 30 factors, some of which are congruent with current psychiatric conceptualizations of schizophrenia, whereas others are not. Results of this report complement previously reported findings from the same setting involving family members of patients with schizophrenia [Esterberg ML, Compton MT. Causes of schizophrenia reported by family members of urban African American hospitalized patients with schizophrenia. Compr Psychiatry 2006;47:221-226]. The 5 most commonly reported causes were disturbance of brain biochemistry (49.6%), drug/alcohol abuse (42.5%), hereditary factors (40.9%), brain injury (40.2%), and avoidance of problems in life (37.8%). The mean number of likely or very likely causes endorsed by participants was 7.5 +/- 5.7. Some 47.9% reported one or more esoteric factors as a cause. Of the 6 esoteric factors, possession by evil spirits (28.3%), radiation (20.2%), and punishment by God (19.7%) were most common. Esoteric causes were more commonly chosen by male participants, those with 12 years of education or less, and participants who reported never having known someone with schizophrenia. Future research should seek to better understand how esoteric beliefs about causation affect attitudes

Cause of death and associated conditions of stillbirths

OpenAIRE

Naveen Prasanna; Kavita Mahadevappa; Ramalingappa C. Antaratani; Laxmikant Lokare

2015-01-01

Background: Fetal death is a psychological trauma for the expecting mother and their family. Most of the countries worldwide lack data on stillbirths. Simply counting stillbirths is the first step in analysis and prevention and hence stillbirths need to count. Purpose of the study is to know the incidence, cause of stillbirths and to plan cause specific interventions to reduce stillbirths. Methods: This is a prospective cross-sectional study of patients with stillbirths from September 201...

Is Self-Regulation "All in the Family"? Testing Environmental Effects Using Within-Family Quasi-Experiments

Science.gov (United States)

Deater-Deckard, Kirby

2016-01-01

Most of the individual difference variance in the population is found "within" families, yet studying the processes causing this variation is difficult due to confounds between genetic and nongenetic influences. Quasi-experiments can be used to test hypotheses regarding environment exposure (e.g., timing, duration) while controlling for…

Familial hypercholesterolaemia in children and adolescents

DEFF Research Database (Denmark)

Wiegman, Albert; Gidding, Samuel S; Watts, Gerald F

2015-01-01

. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle......Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness...... of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis...

Recurrent APC gene mutations in Polish FAP families

Directory of Open Access Journals (Sweden)

Pławski Andrzej

2007-12-01

Full Text Available Abstract The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics. The mutation spectrum in the genes causing hereditary forms of colorectal cancers in the Polish population was previously described. In the present work an estimation of the frequency of the recurrent mutations of the APC gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

Science.gov (United States)

Wang, Kai Jie; Li, Sha Sha; Yun, Bo; Ma, Wen Xian; Jiang, Tian Ge; Zhu, Si Quan

2011-01-08

To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis. All affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved arginine by cysteine at codon 187 (p.R187C). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or 110 ethnically matched controls. Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of MIP protein. This study identified a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family, expanding the mutation spectrum of MIP causing congenital cataract.

Familial adenomatous polyposis

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Rozen Paul

2009-10-01

Full Text Available Abstract Familial adenomatous polyposis (FAP is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE, desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system. A less aggressive variant of FAP, attenuated FAP (AFAP, is characterized by fewer colorectal adenomatous polyps (usually 10 to 100, later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC gene. Most patients (~70% have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP, which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death

DEFF Research Database (Denmark)

Nyegaard, Mette; Overgaard, Michael Toft; Sondergaard, M.T.

2012-01-01

a substantial part of sudden cardiac deaths in young individuals. Mutations in RYR2, encoding the cardiac sarcoplasmic calcium channel, have been identified as causative in approximately half of all dominantly inherited CPVT cases. Applying a genome-wide linkage analysis in a large Swedish family with a severe......Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating inherited disorder characterized by episodic syncope and/or sudden cardiac arrest during exercise or acute emotion in individuals without structural cardiac abnormalities. Although rare, CPVT is suspected to cause...... calmodulin-binding-domain peptide at low calcium concentrations. We conclude that calmodulin mutations can cause severe cardiac arrhythmia and that the calmodulin genes are candidates for genetic screening of individual cases and families with idiopathic ventricular tachycardia and unexplained sudden cardiac...

Genetic heterogeneity in Pakistani microcephaly families

DEFF Research Database (Denmark)

Sajid Hussain, M; Bakhtiar, Syeda Marriam; Farooq, Muhammad

2013-01-01

Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational...... mutation. One third of the families were linked to ASPM followed by WDR62 confirming previous data. We identified three novel ASPM mutations, four novel WDR62 mutations, one novel MCPH1 mutation and two novel CEP152 mutations. CEP152 mutations have not been described before in the Pakistani population....

Family structure and family education as the factors for personal development of preschooler

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Golovey L.A.

2016-06-01

Full Text Available This article is devoted to analysis of personal characteristics of preschoolers in relation to the factors of gender, family structure (complete or one-parent, the presence of sibling and family upbringing (parenting styles, parent-child emotional interaction. The study involved 155 boys, 157 girls and 312 mothers from Saint-Petersburg, Novosibirsk and Arkhangelsk. The age of children — from 4 to 7 years. We used the test and projective techniques. The study revealed that children from single parent families had higher indicators of anxiety, insecurity, depressiveness, self-distrust, hostility, feeling of inferiority, conflicts and difficulties in communication. In families with pronounced overprotection and characteristics of an authoritarian style children had lower self- esteem and higher indicators of anxiety and hostility. Children's aggressiveness was more pronounced in the case of permissive style and instability of parenting style. It was shown that emotional well-being in the parent-child relationships can be regarded as a resource for personal development of the child: understanding the causes of child s state, empathy. However we revealed that one third part of mothers had difficulties in emotional interaction with children. The research was supported by the Russian Foundation for Humanities (project №13-06-00480 «The family as a resource of child´s mental development in stable and critical ontogenetic periods».

Molecular genetics of a Chinese family with spinocerebellar ataxia

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Dan-dan WU

2015-10-01

Full Text Available Objective　To study the genotype of the members of a Chinese family with spinocerebellar ataxia (SCA. Methods　The peripheral blood samples of 6 patients and 40 asymptomatic people belonged to the family were collected. Referring to the clinical manifestations of the proband and second-generation sequencing results, the CAG trinucleotide repeats of the pathogenic gene ATXN2 were amplified by polymerase chain reaction (PCR. The repeated times of the trinucleotide in normally and abnormally amplified alleles were defined by agarose gel electrophoresis and PCR products sequencing. Results　Autosomal dominant heredity was the cause of the SCA in this family. Six out of 46 in the fourth-generation were SCA2 patients, 7 were the carriers of pathogenic allele. The repeated times of CAG trinucleotide were within the normal range in one of the two alleles of ATXN2, but they were in abnormal range in the another one. The repeated times of CAG trinucleotide were 40-46 in abnormal alleles of patients. Conclusion　Autosomal dominant heredity SCA2 has been diagnosed in this family caused by the dynamic nutation of CAG trinucleotide repeats, and 7 pathogenic allele carriers in this family were confirmed by genetic diagnosis. DOI: 10.11855/j.issn.0577-7402.2015.08.07

Psychological causes of non-compliance with electronically monitored occlusion therapy for amblyopia.

Science.gov (United States)

Loudon, S E; Passchier, J; Chaker, L; de Vos, S; Fronius, M; Harrad, R A; Looman, C W N; Simonsz, B; Simonsz, H J

2009-11-01

To analyse psychological causes for low compliance with occlusion therapy for amblyopia. In a randomised trial, the effect of an educational programme on electronically measured compliance had been assessed. 149 families who participated in this trial completed a questionnaire based on the Protection Motivation Theory after 8 months of treatment. Families with compliance less than 20% of prescribed occlusion hours were interviewed to better understand their cause for non-compliance. Poor compliance was most strongly associated with a high degree of distress (p<0.001), followed by low perception of vulnerability (p = 0.014), increased stigma (p = 0.017) and logistical problems with treatment (p = 0.044). Of 44 families with electronically measured compliance less than 20%, 28 could be interviewed. The interviews confirmed that lack of knowledge, distress and logistical problems resulted in non-compliance. Poor parental knowledge, distress and difficulties implementing treatment seemed to be associated with non-compliance. For the same domains, the scores were more favourable for families who had received the educational programme than for those who had not.

Causes And Effects Of Fast Food

OpenAIRE

Eman Al-Saad

2015-01-01

Fast food affects our life in many aspects. In fact There are many reasons that have been shown why people continuing eating fast food while they knew about its negative effects on their health and family because of eating fast food. The commercial advertisements play a major role in consuming fast food. In this research I will focus on causes and effects of eating fast food.

Are Difficulties Balancing Work and Family Associated with Subsequent Fertility?

Science.gov (United States)

Liu, Siwei; Hynes, Kathryn

2012-01-01

Despite considerable interest in the causes and consequences of work-family conflict, and the frequent suggestion in fertility research that difficulty in balancing work and family is one of the factors leading to low fertility rates in several developed countries, little research uses longitudinal data to examine whether women who report…

Defining Crisis in Families of Individuals with Autism Spectrum Disorders

Science.gov (United States)

Weiss, Jonathan A.; Wingsiong, Aranda; Lunsky, Yona

2014-01-01

Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health-related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can…

Atopy and cause-specific mortality

DEFF Research Database (Denmark)

Skaaby, T; Husemoen, L L N; Thuesen, Betina Heinsbæk

2014-01-01

BACKGROUND: Atopy is the familial or personal propensity to develop immunoglobulin E (IgE) antibodies against common environmental allergens and is associated with high risk of allergic disease. It has been proposed that atopy may have effects on risk of cardiovascular disease and cancer...... followed by linkage to the Danish Registry of Causes of Death to obtain information on mortality status and cause of death (median follow-up time 11.3 years). The relative mortality risk was estimated by Cox regression and expressed as hazard ratios, HRs (95% confidence intervals, CIs). RESULTS: A total...... of 1776 person died during follow-up. The mortality risk for atopics vs. non-atopics was: for all-cause mortality (HR = 1.03, 95% CI: 0.90, 1.17); neoplasms (HR = 0.86, 95% CI: 0.69, 1.06); endocrine, nutritional and metabolic disorders (HR = 1.48, 95% CI: 0.71, 3.08); mental and behavioural disorders (HR...

A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

DEFF Research Database (Denmark)

Svendsen, Mathias Tiedemann; Henningsen, Emil; Hertz, Jens Michael

2014-01-01

covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large...

A large inversion in the linear chromosome of Streptomyces griseus caused by replicative transposition of a new Tn3 family transposon.

Science.gov (United States)

Murata, M; Uchida, T; Yang, Y; Lezhava, A; Kinashi, H

2011-04-01

We have comprehensively analyzed the linear chromosomes of Streptomyces griseus mutants constructed and kept in our laboratory. During this study, macrorestriction analysis of AseI and DraI fragments of mutant 402-2 suggested a large chromosomal inversion. The junctions of chromosomal inversion were cloned and sequenced and compared with the corresponding target sequences in the parent strain 2247. Consequently, a transposon-involved mechanism was revealed. Namely, a transposon originally located at the left target site was replicatively transposed to the right target site in an inverted direction, which generated a second copy and at the same time caused a 2.5-Mb chromosomal inversion. The involved transposon named TnSGR was grouped into a new subfamily of the resolvase-encoding Tn3 family transposons based on its gene organization. At the end, terminal diversity of S. griseus chromosomes is discussed by comparing the sequences of strains 2247 and IFO13350.

Nurses involved in whistleblowing incidents: sequelae for their families.

Science.gov (United States)

Wilkes, Lesley M; Peters, Kath; Weaver, Roslyn; Jackson, Debra

2011-01-01

Nurses involved in whistleblowing often face economic and emotional retaliation, victimization and abuse. Yet for many nurses, one major part of their whistleblowing experience is the negative impact it has on their families. This paper reports findings from a qualitative study pertaining to the effects of whistleblowing on family life from the perspective of the nurses. Using a narrative inquiry approach, fourteen nurses were interviewed who were directly involved in whistleblowing complaints. Data analysis drew out three themes: strained relationships with family members, dislocation of family life, and exposing family to public scrutiny. The harm caused to the nurses involved in a whistleblowing event is not restricted to one party but to all those involved, as the harrowing experience and its consequences are echoed in the family life as well. It is important for organizations to seek strategies that will minimize the harmful effects on nurses' families during whistleblowing events.

A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy.

LENUS (Irish Health Repository)

Malik, Talat H

2012-07-01

Controlled activation of the complement system, a key component of innate immunity, enables destruction of pathogens with minimal damage to host tissue. Complement factor H (CFH), which inhibits complement activation, and five CFH-related proteins (CFHR1-5) compose a family of structurally related molecules. Combined deletion of CFHR3 and CFHR1 is common and confers a protective effect in IgA nephropathy. Here, we report an autosomal dominant complement-mediated GN associated with abnormal increases in copy number across the CFHR3 and CFHR1 loci. In addition to normal copies of these genes, affected individuals carry a unique hybrid CFHR3-1 gene. In addition to identifying an association between these genetic observations and complement-mediated kidney disease, these results provide insight into the protective role of the combined deletion of CFHR3 and CFHR1 in IgA nephropathy.

Damage to lens fiber cells causes TRPV4-dependent Src family kinase activation in the epithelium.

Science.gov (United States)

Shahidullah, M; Mandal, A; Delamere, N A

2015-11-01

The bulk of the lens consists of tightly packed fiber cells. Because mature lens fibers lack mitochondria and other organelles, lens homeostasis relies on a monolayer of epithelial cells at the anterior surface. The detection of various signaling pathways in lens epithelial cells suggests they respond to stimuli that influence lens function. Focusing on Src Family Kinases (SFKs) and Transient Receptor Potential Vanilloid 4 (TRPV4), we tested whether the epithelium can sense and respond to an event that occurs in fiber mass. The pig lens was subjected to localized freeze-thaw (FT) damage to fibers at posterior pole then the lens was incubated for 1-10 min in Krebs solution at 37 °C. Transient SFK activation in the epithelium was detectable at 1 min. Using a western blot approach, the ion channel TRPV4 was detected in the epithelium but was sparse or absent in fiber cells. Even though TRPV4 expression appears low at the actual site of FT damage to the fibers, SFK activation in the epithelium was suppressed in lenses subjected to FT damage then incubated with the TRPV4 antagonist HC067047 (10 μM). Na,K-ATPase activity was examined because previous studies report changes of Na,K-ATPase activity associated with SFK activation. Na,K-ATPase activity doubled in the epithelium removed from FT-damaged lenses and the response was prevented by HC067047 or the SFK inhibitor PP2 (10 μM). Similar changes were observed in response to fiber damage caused by injection of 5 μl hyperosmotic NaCl or mannitol solution beneath the surface of the posterior pole. The findings point to a TRPV4-dependent mechanism that enables the epithelial cells to detect remote damage in the fiber mass and respond within minutes by activating SFK and increasing Na,K-ATPase activity. Because TRPV4 channels are mechanosensitive, we speculate they may be stimulated by swelling of the lens structure caused by damage to the fibers. Increased Na,K-ATPase activity gives the lens greater capacity to

Varicella zoster virus infection causing urinary retention in a child ...

African Journals Online (AJOL)

2012-11-02

Nov 2, 2012 ... Varicella zoster virus (VZV) of the human herpes virus family .... VZV, cytomegalovirus and Epstein-Barr virus. Radiculomyelitis causing transient urinary retention and sensory lumbosacral symptoms is known as Elsberg ...

The ‘Blame Game’: Discourse Analysis of Family Members’ and Therapist Negotiation of Problem Definition in Systemic Family Therapy

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Pinelopi Patrika

2016-03-01

Full Text Available The present article aims at shedding light to the complex ways in which blame and responsibility are negotiated, when family members and the therapist engage in problem definition talk in systemic family therapy. The article draws from a qualitative research study which was designed to explore problem talk in systemic family therapy by means of discourse analysis methodology. Nine videotaped initial systemic family therapy sessions in which four different therapists and six different families with a variety of reported difficulties were sampled. They were transcribed verbatim and subjected to micro-analysis by means of the Discursive Action Model. In the present article, we present the detailed analysis of one of the identified patterns of blame allocation, in which family members are shown to construct the identified patient’s deviation from normality as the cause of their difficulties while the therapist is shown to attempt to exonerate blame from the identified patient by means of positive connotation. We discuss the implications of our analysis for theory development and clinical practice in the field, in the context of a growing body of related research. We also hint to the potential of discourse analysis methodology for family therapy research.

Vulnerability of families with children with intestinal stomas

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Clara Ferraz Lazarini Zacarin

2014-06-01

Full Text Available Intestinal stomas cause transformations in the body and create specific and continuous needs for care that imply in hospitalization and surgeries. In this context, we applied the concept of family vulnerability in order to identify the vulnerability of the family living with a child who has intestinal stoma. It is a qualitative study which interviewed the mothers of children with this chronic condition. We used narrative analysis based on the concept of family vulnerability. The results display that the family has gone through previous noteworthy experiences associated with the child’s condition. The family cares for the child on their own and seeks ways to control the situation and regain autonomy, hoping for stoma reversal. Based on the concept of vulnerability, we observed that these families can be considered vulnerable, for they experience threats to their autonomy, but are moved by the hope of reversal and intestinal tract reconstruction. doi: 10.5216/ree.v16i2.26639.

A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

Science.gov (United States)

Yang, Zhenfei; Su, Dongmei; Li, Qian; Ma, Zicheng; Yang, Fan; Zhu, Siquan; Ma, Xu

2013-12-01

To identify the genetic defect in a three-generation Chinese family with congenital cataracts. The phenotype of a three-generation Chinese family with congenital cataract was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of mutant gene. The phenotype of the family was identified as nuclear cataract. Direct sequencing revealed a c.161 G > T transversion in exon 1 of crystallin alpha-A (CRYAA). This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members nor in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54L caused an increase of local hydrophobicity around the substitution site. This study identified a novel disease-causing mutation c.161 G > T (p.R54L) in CRYAA in a Chinese family with autosomal dominant nuclear cataracts, this is the first report relating a G > T mutation in CRYAA leading to congenital nuclear cataract.

Defining crisis in families of individuals with autism spectrum disorders

OpenAIRE

Weiss, Jonathan A; Wingsiong, Aranda; Lunsky, Yona

2014-01-01

Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health–related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can serve as a guide in delivering service to at-risk families. This study investigated the subjective experience of crisis in 155 mothers of children di...

Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+

DEFF Research Database (Denmark)

Selmer, K K; Egeland, T; Solaas, M H

2008-01-01

Background - Mutations in the three genes SCN1A, SCN1B and GABRG2, all encoding subunits of ion channels, have been known to cause generalized epilepsy with febrile seizures plus (GEFS+) in families of different origin. Objective - To study the occurrence of mutations in these genes in families...... with GEFS+ or a GEFS+ resembling phenotype of Scandinavian origin. Material and methods - We performed linkage analysis in 19 Scandinavian families with a history of febrile seizures (FS) and epilepsy or GEFS+. Where linkage could not be excluded, the genes of interest were sequenced. Results - We...... identified only one mutation in SCN1A, which seems to be a rare variant with no functional consequence. Conclusion - This suggests that mutations in these three genes are not a prevalent cause of familial cases of FS and epilepsy or GEFS+ in Scandinavia....

[Learning about the social support provided to the family caregiver assisting a family dependent].

Science.gov (United States)

Nardi, Edileuza de Fátima Rosina; de Oliveira, Magda Lúcia Félix

2008-03-01

The elderly suffering disability caused by diseases need a network of support in order to continue feeling socially active. This study aims at characterizing the social support provided to the family caregiver who looks after an elderly dependent, in Brazil. A descriptive study with qualitative approach was conducted at the municipality of Jandaia do Sul, Paraná, Brazil. Data collection was performed through semi-structured interviews with 19 primary family caregivers. Data analysis was based on Thematic Analysis. The results show that when it comes to informal sources, the reference to grown up children was mostly used, while as formal ones Unidade Básica de Saúde, the Brazilian Basic Health Unit, and the team from Programa Saúde da Familia, Brazilian Pro-Family Health Program, were referred to. However, the image of Community Health Agent was the most mentioned. Thus, it is necessary to create support nets to integrate both formal and informal systems.

An unusual type of familial lipodystrophy

DEFF Research Database (Denmark)

Johansen, K; Rasmussen, M H; Kjems, L L

1995-01-01

A mother and her daughter with a novel type of familial partial lipodystrophy were studied. Both had atrophy of fat in the face, chest, and upper and lower limbs and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance...

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

Science.gov (United States)

Gardner, Olivia K; Haynes, Karla; Schweitzer, Daniela; Johns, Alexis; Magee, William P; Urata, Mark M; Sanchez-Lara, Pedro A

2017-11-01

We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.

New mutations in APOB100 involved in familial hypobetalipoproteinemia

DEFF Research Database (Denmark)

Brusgaard, Klaus; Kjaersgaard, Lars; Hansen, Anne-Birthe Bo

2011-01-01

Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins. FHBL may be caused by mutations of APOB. Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins....... Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel truncating mutation together with a novel missense mutation....

Causes And Effects Of Fast Food

Directory of Open Access Journals (Sweden)

Eman Al-Saad

2015-08-01

Full Text Available Fast food affects our life in many aspects. In fact There are many reasons that have been shown why people continuing eating fast food while they knew about its negative effects on their health and family because of eating fast food. The commercial advertisements play a major role in consuming fast food. In this research I will focus on causes and effects of eating fast food.

Family in historical and regional perspective

Directory of Open Access Journals (Sweden)

Tripković Gordana D.

2002-01-01

Full Text Available In this article author gives try to provide a frame suitable for researches of regional and multicultural characteristics of family, specially in Vojvodina region. Starting with the thesis that there is no perfect analytical model to be applied in investigation of regionalization and multiculturality, for the gap between monocultural and multicultural epistemology could not be bridged over, author is paying attention to the opportunities for regionalization to pervert in regionalism in the sense of ideology and policy that neglect specific regional needs of family. This dispels a negative consequences concerning the self development of the family as a very reason for regionalization to be accomplished. In spite of attractive ideas that regionalization is addressed to, regionalization of this kind realizes on the matrix above, of deciding 'in the people's name'. In this fashion regionalization is followed with the violence and confrontations as probable outcomes of changes within multicultural society. Exaggeration in emphasizing of differences. a s well as its neglecting, would cause more or less open confrontations and thus provide the causes of dissolution of the communities. In this context main problem is how family could retained its stability if it persists under the pressure of contrary forces concerning identity. This would be resolved only if identity is conceived as an open complex and ever unfinished on lay - in endless process of building. Regionalization in this sense of the term could be perceived as a defining of the proper game rules as well as it forceful adjustment and completion.

A novel AMELX mutation causes hypoplastic amelogenesis imperfecta.

Science.gov (United States)

Kim, Young-Jae; Kim, Youn Jung; Kang, Jenny; Shin, Teo Jeon; Hyun, Hong-Keun; Lee, Sang-Hoon; Lee, Zang Hee; Kim, Jung-Wook

2017-04-01

Amelogenesis imperfecta (AI) is a hereditary genetic defect affecting tooth enamel. AI is heterogeneous in clinical phenotype as well as in genetic etiology. To date, more than 10 genes have been associated with the etiology of AI. Amelogenin is the most abundant enamel matrix protein, most of which is encoded by the amelogenin gene in the X-chromosome (AMELX). More than 16 alternative splicing transcripts have been identified in the murine Amelx gene. The purpose of this study was to identify the genetic cause of an AI family. We recruited a family with hypoplastic AI and performed mutational analysis on the candidate gene based on the clinical phenotype. Mutational analysis revealed a missense mutation in exon 6 (NM_182680.1; c.242C > T), which changes a sequence in a highly conserved amino acid (NP_872621.1; p.Pro81Leu). Furthermore, a splicing assay using a minigene displayed that the mutation changed the mRNA splicing repertory. In this study, we identified a novel AMELX missense mutation causing hypoplastic AI, and this mutation also resulted in altered mRNA splicing. These results will not only expand the mutation spectrum causing AI but also broaden our understanding of the biological mechanism of enamel formation. Copyright © 2017 Elsevier Ltd. All rights reserved.

Investigating performance of rural family physicians in Fars province working as part of Family Physician Program

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Mansour Kashfi

2016-09-01

Full Text Available Background & Objective: Health family physician program is a complete system which eliminates the bewilderment of people and increases the satisfaction with health services as its most important results in medical care. The aim of this study was to evaluate the performance of family physicians and their strengths and weaknesses. Material & Methods: In this study, 52 family physicians were chosen via Random Stratified Sampling to participate in the study. A questionnaire titled “Performance of Family Physicians” with 5 domains of management, performance, contract guidelines, community involvement and results was used to collect data. Data were analyzed using SPSS-19 via t-test, ANOVA, Pearson correlation coefficient, and non-parametric tests. Results: Among the 52 studied family physicians, 56.9% were female and 43.1% were male. The lowest and the highest scores were obtained for the community involvement and results, respectively. Based on the results of this study, there were significant relationships among most of the domains. However, there was no significant correlation between the gender and different domains. Conclusion: In order to solve the problems of family physician program and improve the quality of services, more researches should be carried out soon to determine the types and causes of referring to the family physicians. Accordingly, appropriate interventions should be implemented to reduce the burden of visits and improve the quality of health services by guiding the society towards the prevention measures.

Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.

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Jan C-C Hu

Full Text Available Amelogenesis imperfecta (AI is a group of inherited conditions featuring isolated enamel malformations. About 5% of AI cases show an X-linked pattern of inheritance, which are caused by mutations in AMELX. In humans there are two, non-allelic amelogenin genes: AMELX (Xp22.3 and AMELY (Yp11.2. About 90% of amelogenin expression is from AMELX, which is nested within intron 1 of the gene encoding Rho GTPase activating protein 6 (ARHGAP6. We recruited two AI families and determined that their disease-causing mutations were partial deletions in ARHGAP6 that completely deleted AMELX. Affected males in both families had a distinctive enamel phenotype resembling "snow-capped" teeth. The 96,240 bp deletion in family 1 was confined to intron 1 of ARHGAP6 (g.302534_398773del96240, but removed alternative ARHGAP6 promoters 1c and 1d. Analyses of developing teeth in mice showed that ARHGAP6 is not expressed from these promoters in ameloblasts. The 52,654 bp deletion in family 2 (g.363924_416577del52654insA removed ARHGAP6 promoter 1d and exon 2, precluding normal expression of ARHGAP6. The male proband of family 2 had slightly thinner enamel with greater surface roughness, but exhibited the same pattern of enamel malformations characteristic of males in family 1, which themselves showed minor variations in their enamel phenotypes. We conclude that the enamel defects in both families were caused by amelogenin insufficiency, that deletion of AMELX results in males with a characteristic snow-capped enamel phenotype, and failed ARHGAP6 expression did not appreciably alter the severity of enamel defects when AMELX was absent.

Family adaptability and cohesion in families consisting of Asian immigrant women living in South Korea: A 3-year longitudinal study.

Science.gov (United States)

Kim, Yeon-Pyo; Kim, Sun; Joh, Ju-Youn

2015-06-01

South Korea's low birth rate, aging society, and female migration to urban areas due to industrialization have caused an accelerated inflow of Asian female immigrants into Korea to marry Korean men, especially in rural areas. This study was performed to determine how family function of multicultural families changes over time and what factors affect the changes in family function of multicultural families. The study subjects were 62 Asian immigrant women married to South Korean men living in South Korea. In a 1st wave study in August 2008, the socioeconomic factors and Family Adaptability and Cohesion Scale III (FACES III) scores were measured. A 3-year follow-up study was then conducted in August 2011, and the results were compared with the 1st wave study results. The mean family adaptability score was 24.6 in the 1st wave study and 26.1 at the 3-year follow-up. The average family cohesion score was 31.0 in the 1st wave study and 36.7 at the 3-year follow-up. There was a statistically significant increase in family cohesion after 3 years (P adaptability did not change over time; however, conversely, family cohesion increased. The age difference between husband and wife and the subjective SES had a positive association with the changes in family cohesion. Copyright © 2013 Wiley Publishing Asia Pty Ltd.

TRANSFORMATION OF FAMILY IN MODERN RUSSIAN SOCIETY

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Olga Anatolevna Otradnova

2014-09-01

Full Text Available The article examines concept of family in Russian society, changes in interpretation of family, connected with modern tendencies and processes in different sociocultural spheres.   The article is structured and has accurate limits of introduction, main part and conclusion. The relevance of the research is caused by present-day crisis tendencies connected with suicide actions, atomization and hedonization of society, value depreciation of family.  The object of the research is to analyze the conception of family and its transformation in condition of modern Russian society. The tasks are to determine the term family, to analyze approaches to understanding of the family and its genesis, detect some peculiarities of modern Russian society, research the transformation of interpretation of family in modern society; the matter of investigation is modern Russian society, the subject is the transformation of family structures; the following methods of research are used: historical and cultural approach, typological method, existential method, common logic procedures. The research contains author’s definition of the term family, historical and cultural analysis and typological explication of the approaches to interpretation of the problem, classification of family structures - which have been formed in Russian society- on the base of statistic and sociological data.   Some interweaving of concept family with the most important existential values (love, freedom, responsibility were investigated and some tendencies for further development of family relationship in Russian society were revealed, its problems and prospect were emphasized. The results of the investigation testify that modern types of matrimonial relationship differ in limitation of functionality, mutual responsibility, thereby it is possible to state that interpretation of family in modern Russian society has transformed.

Causes of Speech Disorders in Primary School Students of Zahedan

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Saeed Fakhrerahimi

2013-02-01

Full Text Available Background: Since making communication with others is the most important function of speech, undoubtedly, any type of disorder in speech will affect the human communicability with others. The objective of the study was to investigate reasons behind the [high] prevalence rate of stammer, producing disorders and aglossia.Materials and Methods: This descriptive-analytical study was conducted on 118 male and female students, who were studying in a primary school in Zahedan; they had referred to the Speech Therapy Centers of Zahedan University of Medical Sciences in a period of seven months. The speech therapist examinations, diagnosis tools common in speech therapy, Spielberg Children Trait and also patients' cases were used to find the reasons behind the [high] prevalence rate of speech disorders. Results: Psychological causes had the highest rate of correlation with the speech disorders among the other factors affecting the speech disorders. After psychological causes, family history and age of the subjects are the other factors which may bring about the speech disorders (P<0.05. Bilingualism and birth order has a negative relationship with the speech disorders. Likewise, another result of this study shows that only psychological causes, social causes, hereditary causes and age of subjects can predict the speech disorders (P<0.05.Conclusion: The present study shows that the speech disorders have a strong and close relationship with the psychological causes at the first step and also history of family and age of individuals at the next steps.

Familial juvenile hyperuricemic nephropathy : report on a new mutation and a pregnancy

NARCIS (Netherlands)

Lhotta, Karl; Gehringer, A; Jennings, P; Kronenberg, F.; Brezinka, C; Andersone, I; Strazdins, V

BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. CASE REPORTS AND RESULTS: A Latvian family suffering from FJHN is

Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.

Science.gov (United States)

Yamaguti, Paulo Marcio; Neves, Francisco de Assis Rocha; Hotton, Dominique; Bardet, Claire; de La Dure-Molla, Muriel; Castro, Luiz Claudio; Scher, Maria do Carmo; Barbosa, Maristela Estevão; Ditsch, Christophe; Fricain, Jean-Christophe; de La Faille, Renaud; Figueres, Marie-Lucile; Vargas-Poussou, Rosa; Houillier, Pascal; Chaussain, Catherine; Babajko, Sylvie; Berdal, Ariane; Acevedo, Ana Carolina

2017-01-01

Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. FHHNC can be linked to mutations in both genes. Claudin-16 was shown to be expressed during amelogenesis; however, no data are available on claudin-19. Moreover, the enamel phenotype of patients with CLDN19 mutations has never been described. In this study, we describe the clinical and genetic features of nine patients with FHHNC carrying CLDN19 mutations and the claudin-19 expression profile in rat ameloblasts. Six FHHNC Brazilian patients were subjected to mutational analysis. Three additional French patients were recruited for orodental characterisation. The expression profile of claudin-19 was evaluated by RT-qPCR and immunofluorescence using enamel epithelium from rat incisors. All patients presented AI at different degrees of severity. Two new likely pathogenic variations in CLDN19 were found: p.Arg200Gln and p.Leu90Arg. RT-qPCR revealed low Cldn19 expression in ameloblasts. Confocal analysis indicated that claudin-19 was immunolocalised at the distal poles of secretory and maturing ameloblasts. For the first time, it was demonstrated that AI is associated with FHHNC in patients carrying CLDN19 mutations. The data suggest claudin-19 as an additional determinant in enamel formation. Indeed, the coexistence of hypoplastic and hypomineralised AI in the patients was consistent with claudin-19 expression in both secretory and maturation stages. Additional indirect systemic effects cannot be excluded. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta.

Science.gov (United States)

Volodarsky, Michael; Zilberman, Uri; Birk, Ohad S

2015-06-01

To relate the peculiar phenotype of amelogenesis imperfecta in a large Bedouin family to the genotype determined by whole genome linkage analysis. Amelogenesis imperfecta (AI) is a broad group of inherited pathologies affecting enamel formation, characterized by variability in phenotypes, causing mutations and modes of inheritance. Autosomal recessive or compound heterozygous mutations in FAM20A, encoding sequence similarity 20, member A, have been shown to cause several AI phenotypes. Five members from a large consanguineous Bedouin family presented with hypoplastic amelogenesis imperfecta with unerupted and resorbed permanent molars. Following Soroka Medical Center IRB approval and informed consent, blood samples were obtained from six affected offspring, five obligatory carriers and two unaffected siblings. Whole genome linkage analysis was performed followed by Sanger sequencing of FAM20A. The sequencing unravelled a novel homozygous deletion mutation in exon 11 (c.1523delC), predicted to insert a premature stop codon (p.Thr508Lysfs*6). We provide an interesting case of novel mutation in this rare disorder, in which the affected kindred is unique in the large number of family members sharing a similar phenotype. Copyright © 2015 Elsevier Ltd. All rights reserved.

Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

DEFF Research Database (Denmark)

Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas

2013-01-01

Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

Familial adenomatous polyposis.

OpenAIRE

Burn, J; Chapman, P D; Eastham, E J

1994-01-01

Abstract Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rect...

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis

DEFF Research Database (Denmark)

Rohlin, A; Engwall, Y; Fritzell, K

2011-01-01

Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half of ...... homozygous inactivation of APC allowing for alternative genetic models as basis for adenoma formation.Oncogene advance online publication, 6 June 2011; doi:10.1038/onc.2011.201....... in a panel of 20 various normal tissues examined. In FAP-related tumors, the APC germline mutation is proposed to dictate the second hit. Mutations leaving two or three out of seven 20-amino-acid repeats in the central domain of APC intact seem to be required for tumorigenesis. We examined adenomas from...... mutation carriers in Family 1 for second hits in the entire gene without any findings, however, loss of the residual expression of the deleterious allele was observed. Three major conclusions of significant importance in relation to the function of APC can be drawn from this study; (i) germline...

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

OpenAIRE

Shamim Saleha; Muhammad Ajmal; Muhammad Jamil

2016-01-01

AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH). To identify the locus responsible for the Usher phenotype...

Transformations of the family – social bond in the 21st century family [Przeobrażenia więzi rodzinno-społecznych w rodzinie XXI wieku

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Urszula GAŁĘSKA

2017-11-01

Full Text Available The concept of the family (social bond has not been explained and precisely defined so far. The most common definition is known as a dual character of human relationships. Cultural, economic, legal, religious and social factors in which a family lives, influence considerably the typical family bonds. Transformations of the bond in the 21st century family are caused by changes which have occurred and continuue to occur in the structure, functions and organization of the family live. A system of mutually connected elements of the upbringing process in the family, between which all kinds of dynamic associations and interactions are clearly visible. So we should pay our attention to transformations of the family bond in incessantly changing conditions. It is necessary especially in social, economic and cultural areas, where the role of the traditional family is becoming less important.

On the age of the Nele asteroid family

Science.gov (United States)

Carruba, V.; Vokrouhlický, D.; Nesvorný, D.; Aljbaae, S.

2018-06-01

The Nele group, formerly known as the Iannini family, is one of the youngest asteroid families in the main belt. Previously, it has been noted that the pericentre longitudes ϖ and nodal longitudes Ω of its largest member asteroids are clustered at the present time, therefore suggesting that the collisional break-up of parent body must have happened recently. Here, we verify this conclusion by detailed orbit-propagation of a synthetic Nele family and show that the current level of clustering of secular angles of the largest Nele family members requires an approximate age limit of 4.5 Myr. Additionally, we make use of an updated and largely extended Nele membership to obtain, for the first time, an age estimate of this family using the backward integration method. Convergence of the secular angles in a purely gravitational model and in a model including the non-gravitational forces caused by the Yarkovsky effect are both compatible with an age younger than 7 Myr. More accurate determination of the Nele family age would require additional data about the spin state of its members.

Assessing the place of neurobiological explanations in accounts of a family member's addiction.

Science.gov (United States)

Meurk, Carla; Fraser, Doug; Weier, Megan; Lucke, Jayne; Carter, Adrian; Hall, Wayne

2016-07-01

The brain disease model of addiction posits that addiction is a persistent form of neural dysfunction produced by chronic drug use, which makes it difficult for addicted persons to become and remain abstinent. As part of an anticipatory policy analysis of addiction neuroscience, we engaged family members of addicted individuals to assess their views on the place and utility of brain-based accounts of addiction. Fifteen in-depth qualitative interviews were conducted and used to develop a quantitative online survey that was completed by 55 family members. This article reports responses on what addiction is and how it is caused and responses to explanations of the brain disease model of addiction. Participants gave multiple reasons for their family members developing an addiction and there was no single dominant belief about the best way to describe addiction. Participants emphasised the importance of both scientific and non-scientific perspectives on addiction by providing multifactorial explanations of their family members' addictions. Most family members acknowledged that repeated drug use can cause changes to the brain, but they varied in their reactions to labelling addiction a 'brain disease'. They believed that understanding addiction, and how it is caused, could help them support their addicted relative. Participants' beliefs about neurobiological information and the brain disease model of addiction appeared to be driven by empathetic, utilitarian considerations rather than rationalist ones. We discuss the importance of providing information about the nature and causes of addiction. [Meurk C, Fraser D, Weier M, Lucke J, Carter A, Hall W. Assessing the place of neurobiological explanations in accounts of a family member's addiction. Drug Alcohol Rev 2016;35:461-469]. © 2015 Australasian Professional Society on Alcohol and other Drugs.

Causes of hearing impairment in the Norwegian paediatric cochlear implant program.

Science.gov (United States)

Siem, Geir; Fagerheim, Toril; Jonsrud, Christoffer; Laurent, Claude; Teig, Erik; Harris, Sten; Leren, Trond P; Früh, Andreas; Heimdal, Ketil

2010-08-01

Severe to profound hearing impairment (HI) is estimated to affect around 1/2000 young children. Advances in genetics have made it possible to identify several genes related to HI. This information can cast light upon prognostic factors regarding the outcome in cochlear implantation, and provide information both for scientific and genetic counselling purposes. From 1992 to 2005, 273 children from 254 families (probands) were offered cochlear implants in Norway. An evaluation of the causes of HI, especially regarding the genes GJB2, GJB6, SLC26A4, KCNQ1, KCNE1, and the mutation A1555G in mitochondrial DNA was performed in 85% of the families. The number of probands with unknown cause of HI was thus reduced from 120 to 68 (43% reduction). Ninety-eight (46%) of the probands had an identified genetic etiology of their HI. A relatively high prevalence of Jervell and Lange-Nielsen syndrome was found. The main causes of severe and profound HI were similar to those found in other European countries. GJB2 mutations are a common cause of prelingual HI in Norwegian cochlear implanted children.

A Danish family with dominant deafness-onychodystrophy syndrome.

Science.gov (United States)

Vind-Kezunovic, Dina; Torring, Pernille M

2013-01-01

The rare hereditary disorder "dominant deafness and onychodystrophy (DDOD) syndrome" (OMIM 124480) has been described in a few case reports. No putative DDOD gene or locus has been mapped and the cause of the disorder remains unknown. We present here three male family members in three generations with sensori-neural deafness, onychodystrophy and brachydactyly inherited via autosomal dominant transmission. The family members presented with absent fingernails on the first and fifth digits. As to the feet, there were absent nails on second to fifth toes in two family members, whereas the third family member only had absent nails on the fifth toe. The proband had late dentition and his father a history of late dentition, but otherwise the teeth appeared normal. Comparative genomic hybridization array analysis (Agilent 400k oligoarray) of the proband did not detect any copy number variation. This Danish family fits within the spectrum of dominant deafness and onychodystrophy syndrome and further characterises this rare disorder.

Familial Kleine-Levin Syndrome: A Specific Entity?

Science.gov (United States)

Nguyen, Quang Tuan Remy; Groos, Elisabeth; Leclair-Visonneau, Laurène; Monaca-Charley, Christelle; Rico, Tom; Farber, Neal; Mignot, Emmanuel; Arnulf, Isabelle

2016-08-01

Kleine-Levin syndrome (KLS) is a rare, mostly sporadic disorder, characterized by intermittent episodes of hypersomnia plus cognitive and behavior disorders. Although its cause is unknown, multiplex families have been described. We contrasted the clinical and biological features of familial versus sporadic KLS. Two samples of patients with KLS from the United States and France (n = 260) were studied using clinical interviews and human leukocyte antigen (HLA) genotyping. A multiplex family contained two or more first- or second-degree affected relatives (familial cases). Twenty-one patients from 10 multiplex families (siblings: n = 12, including two pairs of monozygotic twins; parent-child: n = 4; cousins: n = 2; uncle-nephews: n = 3) and 239 patients with sporadic KLS were identified, yielding to 4% multiplex families and 8% familial cases. The simplex and multiplex families did not differ for autoimmune, neurological, and psychiatric disorders. Age, sex ratio, ethnicity, HLA typing, karyotyping, disease course, frequency, and duration of KLS episodes did not differ between groups. Episodes were less frequent in familial versus sporadic KLS (2.3 ± 1.8/y versus 3.8 ± 3.7/y, P = 0.004). Menses triggered more frequently KLS onset in the nine girls with familial KLS (relative risk, RR = 4.12, P = 0.03), but not subsequent episodes. Familial cases had less disinhibited speech (RR = 3.44, P = 0.049), less combined hypophagia/hyperphagia (RR = 4.38, P = 0.006), more abrupt termination of episodes (RR = 1.45, P = 0.04) and less postepisode insomnia (RR = 2.16, P = 0.008). There was similar HLA DQB1 distribution in familial versus sporadic cases and no abnormal karyotypes. Familial KLS is mostly present in the same generation, and is clinically similar to but slightly less severe than sporadic KLS. © 2016 Associated Professional Sleep Societies, LLC.

DOES FAMILY SOCIAL SUPPORT AFFECT STARTUP BUSINESS ACTIVITIES?

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Nurlaily F.

2018-02-01

Full Text Available In recent years, StartUp has shown a considerable progress in Indonesia. Although most of the StartUps are newly established companies in phase to find the right markets, the StartUps are expected to contribute to the economy and solve local problems. In Indonesia most of the StartUps are still in the idea stage. Therefore, they have no profit, loss, or even failure. It causes the StartUps to be difficult in gaining trust from investors. To overcome these problems, support from various parties is necessary for the development of StartUp activities. One of them is a support from family (Family Social Support. Previous studies have shown that family support contributes to the success of an entrepreneur. However, there has been no research on the relationship between family support with StartUp activities, especially in developing countries like Indonesia. This study examined the influence of family social support in the form of financial capital support, social capital, human capital, physical capital, and family cohesiveness on StartUp activities in Indonesia by using Poisson regression analysis. The results showed that family cohesiveness had a significant effect on the increase of StartUp activities.

A bio-ecological interpretation of the relationship challenges in the context of the reconstituted family

OpenAIRE

Ebersohn, S; Bouwer, AC

2015-01-01

From an educational psychology perspective, family life - as a child's primary educational situation - is changing drastically as divorces increase worldwide. Various challenges to relationships accompany the restructuring of family systems after divorce. When remarriage occurs, children's shared membership of two family microsystems and the resultant complexity of the mesosystem cause the reconstituted family situation to come to differ radically from that of a nuclear family. The purpose of...

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2

DEFF Research Database (Denmark)

Neilson, Derek E; Adams, Mark D; Orr, Caitlin M D

2009-01-01

a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C-->T, p.Thr585Met) in the gene encoding the nuclear pore...... protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de...... novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude...

Who counts as family? Family typologies, family support, and family undermining among young adult gay and bisexual men.

Science.gov (United States)

Soler, Jorge H; Caldwell, Cleopatra H; Córdova, David; Harper, Gary; Bauermeister, José A

2018-06-01

Gay and bisexual men may form chosen families in addition to or in place of families of origin. However, the characteristics of these diverse families remain largely unexamined in the quantitative literature. The purpose of this study was to develop a family typology based on responses from a racially and ethnically diverse sample of young adult gay and bisexual men (YGBM) recruited from the Detroit Metropolitan Area (N=350; 18-29 years old). To explore the role of family, we then examined family social support and social undermining in relation to YGBM psychological distress within different family types. A series of multivariate regressions were used to examine associations between family social support and social undermining with depression and anxiety outcomes. The majority (88%) of YGBM included family of origin in their definitions of family and 63% indicated having chosen families. Associations between family social processes and psychological outcomes varied by type of family, suggesting that family composition shapes how perceptions of support and undermining relate to experiencing symptoms of depression and anxiety. Chosen families play a prominent role in the lives of YGBM and should not be overlooked in family research. Findings also highlight the importance of examining co-occurring family social support and social stress processes to further address psychological distress symptoms among YGBM.

Genetics of familial hypercholesterolemia: a tool for development of novel lipid lowering pharmaceuticals?

NARCIS (Netherlands)

Volta, Andrea; Hovingh, G. Kees; Grefhorst, Aldo

2018-01-01

Familial hypercholesterolemia is characterized by high LDL cholesterol and an elevated risk to develop coronary heart disease. Mutations in LDL receptor-mediated cholesterol uptake are the main cause of familial hypercholesterolemia. However, multiple mutations in various other genes are also

Marfan Syndrome in an Iranian Family: A Case Series

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Mohammad Hossein Davari

2015-07-01

Full Text Available Marfan syndrome (MFS is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons, and six grandchildren had MFS. Lens ectopia was the most common ophthalmic involvement among the family (100%. Other ocular involvements were as follows; Hypoplastic iris or ciliary’s muscle hypoplasia (50%, on gated eyeball (42%, flat cornea (30%, glaucoma and cataract (25%, retinal detachment (16%. Three members of the family underwent eye surgery including lens extraction, glaucoma surgery and retinal surgery.

Family planning and social position of women.

Science.gov (United States)

Begum, Hasna

1993-04-01

This presentation began with at least three biases: (i) Acceptance of a secular approach to the problem of artificially controlling human reproduction; (ii) acceptance of an absolute egalitarian position in matter of choices and applications of family planning methods; and (iii) acceptance of the view that a small family gives women more opportunities to flourish as humans. The conclusion of the presentation is: though in implementing family planning programmes much deviation from the egalitarian principle could be found, in reality the implementation itself does bring about some opportunities for women to enhance their position in society. Undoubtedly the malpractices in family planning programmes cause death and miseries to women. But, until better methods are invented for both male and female sexes to replace the harmful ones and the male members of the society feel equal responsibility in matters of controlling reproduction, women have now no other choice but to accept the lesser evil.

Beyond Work-Family Programs: Confronting and Resolving the Underlying Causes of Work-Personal Life Conflict.

Science.gov (United States)

Kofodimos, Joan R.

Work-Family Programs (WFPs) are among the most popular and publicized workplace innovations of the 1990s. These programs are intended to alleviate employees' work-personal conflicts by addressing issues such as child care assistance, parental leave, elder care, flexible working arrangements, wellness and fitness, and stress management. The problem…

Perceived work and family conflict among African American nurses in college.

Science.gov (United States)

Gipson-Jones, Trina

2009-07-01

This article describes the perceptions of African American nurses regarding the interaction between work-family conflict, job satisfaction, and psychological well-being. A qualitative descriptive design was employed to conduct six focus group sessions with 23 nurses at three universities in the southeastern United States. Stressors such as racism or lack of teamwork and supervisor support caused the nurses to contemplate leaving a workplace or the profession. Family stressors, such as an ill family member, also influenced any decision regarding career longevity. Future studies examining work-family interface, especially positive spillover and psychological well-being are warranted.

Effects of intermittent theta burst stimulation on spasticity after stroke.

Science.gov (United States)

Kim, Dae Hyun; Shin, Ji Cheol; Jung, Seungsoo; Jung, Tae-Min; Kim, Deog Young

2015-07-08

Spasticity is a common cause of long-term disability in poststroke hemiplegic patients. We investigated whether intermittent theta burst stimulation (iTBS) could reduce upper-limb spasticity after a stroke. Fifteen hemiplegic stroke patients were recruited for a double-blind sham-controlled cross-over design study. A single session of iTBS or sham stimulation was delivered on the motor hotspot of the affected flexor carpi radialis muscle in a random and counterbalanced order with a 1-week interval. Modified Ashworth scale (MAS), modified Tardieu scale (MTS), H-wave/M-wave amplitude ratio, peak torque (PT), peak torque angle (PTA), work of affected wrist flexor, and rectified integrated electromyographic activity of the flexor carpi radialis muscle were measured before, immediately after, 30 min after, and 1 week after iTBS or sham stimulation. Repeated-measures analysis of variance showed a significant interaction between time and intervention for the MAS, MTS, PT, PTA, and rectified integrated electromyographic activity (PiTBS compared with sham stimulation. However, the H-wave/M-wave amplitude ratio and work were not affected. MAS and MTS significantly improved for at least 30 min after iTBS, but the other parameters only improved immediately after iTBS (PiTBS on the affected hemisphere may help to reduce poststroke spasticity transiently.

Jesus and cultural values: Family life as an example

Directory of Open Access Journals (Sweden)

Carolyn Osiek

1997-12-01

Full Text Available 'Family values' is a set of traditional images that most cultures collect, images drawn mostly from an idealized picture of family life in the recent past. For Christians, the popular image of Jesus gets included: the Holy Family as a nuclear family unit, Jesus blessing children, Jesus as advocate of traditional family life. A closer reading of both contemporary family life and the Gospels reveals that things are not what they seem. Contemporary family life in Western societies is structured quite differently than the ideal. Jesus' family life was spent in a peasant village surrounded by relatives and neighbors, with little privacy and strong social pressure towards conformity. The gospel records indicate that he did not conform, and paid the price: rejection and misunderstanding by his extended family. The Synoptic Gospels consistently ponray not only an estrangement between Jesus and his family, but Jesus' encouragement of his disciples to break family ties in favor of the surrogate family of the circle of disciples. In a culture in which kinship loyalty was essential, this  message caused deep problems for early Christians which the authors of the household codes of Ephesians, Colossians, the  Pastoral Epistles, and 1 Peter tried to alleviate.

Family Violence and Family Physicians

Science.gov (United States)

Herbert, Carol P.

1991-01-01

The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Science.gov (United States)

Waryah, Ali M.; Ahmed, Zubair M.; Choo, Daniel I.; Sisk, Robert A.; Binder, Munir A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

2011-01-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132, PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild to profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling, and molecular epidemiology of hearing loss among Pakistanis. PMID:21633365

Molecular and clinical studies of X-linked deafness among Pakistani families.

Science.gov (United States)

Waryah, Ali M; Ahmed, Zubair M; Bhinder, Munir A; Binder, Munir A; Choo, Daniel I; Sisk, Robert A; Shahzad, Mohsin; Khan, Shaheen N; Friedman, Thomas B; Riazuddin, Sheikh; Riazuddin, Saima

2011-07-01

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis.

Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta.

Science.gov (United States)

Seymen, F; Lee, K-E; Tran Le, C G; Yildirim, M; Gencay, K; Lee, Z H; Kim, J-W

2014-04-01

Amelogenesis imperfecta is a heterogeneous group of genetic conditions affecting enamel formation. Recently, mutations in solute carrier family 24 member 4 (SLC24A4) have been identified to cause autosomal recessive hypomaturation amelogenesis imperfecta. We recruited a consanguineous family with hypomaturation amelogenesis imperfecta with generalized brown discoloration. Sequencing of the candidate genes identified a 10-kb deletion, including exons 15, 16, and most of the last exon of the SLC24A4 gene. Interestingly, this deletion was caused by homologous recombination between two 354-bp-long homologous sequences located in intron 14 and the 3' UTR. This is the first report of exonal deletion in SLC24A4 providing confirmatory evidence that the function of SLC24A4 in calcium transport has a crucial role in the maturation stage of amelogenesis.

Phytodermatitis caused by Ceratocephalus falcatus (Ranunculacea).

Science.gov (United States)

Karaca, Semsettin; Kulac, Mustafa; Kucuker, Hudaverdi

2005-01-01

Ceratocephalus falcatus is a member of Ranunculacea family that forms part of the flora of the Sinanpasa and Dinar regions of Afyon city in Turkey. Ceratocephalus falcatus has laxative properties and has been used for treating hemorrhoids, rheumatismal diseases and wounds. Here, a case of phytodermatitis caused by this remedy used for relieving knee pain is presented. This plant should be kept in mind when a case of phytodermatitis with vesicles or bullae presents at clinics.

Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome.

LENUS (Irish Health Repository)

McGorrian, Catherine

2013-02-03

AIMS: Sudden arrhythmic death syndrome (SADS) occurs when a person suffers a sudden, unexpected death, with no cause found at postmortem examination. We aimed to describe the cardiac screening outcomes in a population of relatives of SADS victimsMETHODS AND RESULTS: Prospective and retrospective cohort study of consecutive families attending the Family Heart Screening clinic at the Mater Misericordiae Hospital in Dublin, Ireland, from January 2007 to September 2011. Family members of SADS victims underwent a standard screening protocol. Adjunct clinical and postmortem information was sought on the proband. Families who had an existing diagnosis, or where the proband had epilepsy, were excluded. Of 115 families identified, 73 were found to fit inclusion criteria and were retained for analysis, with data available on 262 relatives. Over half of the screened family members were female, and the mean age was 38.6 years (standard deviation 15.6). In 22 of 73 families (30%), and 36 of 262 family members (13.7%), a potentially inheritable cause of SADS was detected. Of the population screened, 32 patients (12.2%) were treated with medication, and 5 (1.9%) have received implantable cardiac defibrillators. Of the five families with long QT syndrome (LQTS) who had a pathogenic gene mutation identified, three carried two such mutations.CONCLUSION: In keeping with international estimates, 30% of families of SADS victims were found to have a potentially inherited cardiac disease. The most common positive finding was LQTS. Advances in postmortem standards and genetic studies may assist in achieving more diagnoses in these families.

[Atypical manifestations in familial type 1 Waardenburg syndrome].

Science.gov (United States)

Sans, B; Calvas, P; Bazex, J

1998-01-01

Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Science.gov (United States)

Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad

2011-02-01

Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.

Familial Pallister-Hall in adulthood.

Science.gov (United States)

Talsania, Mitali; Sharma, Rohan; Sughrue, Michael E; Scofield, R Hal; Lim, Jonea

2017-10-01

Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. A 59 year old man developed seizures 4 years prior to our evaluation of him, at which time imaging showed a hypothalamic hamartoma. The seizures were controlled medically. He did well until he had visual changes after a traumatic head injury. Repeat MRI showed slight expansion of the mass with formal visual field testing demonstrating bitemporal hemianopsia. There was no evidence of pituitary dysfunction except for large urine volume. He underwent surgery to debulk the hamartoma and the visual field defects improved. There was no hypopituitarism post-operatively, and the polydyspia resolved. His 29 year old daughter also had seizures and hypothalamic hamartoma. Both patients had had polydactyly with prior surgical correction in childhood. The daughter underwent genetic testing, which revealed a previously undescribed heterozygous single base pair deletion in exon 13 of the GLI3 gene causing a frameshift mutation. Further investigation into family history revealed multiple members in previous generations with polydactyly and/or seizures. Pallister-Hall syndrome is caused by an inherited autosomal dominant or de novo mutation in GLI3 gene. This rare syndrome has not had prevalence defined, however. Generally, diagnoses are made in the pediatric population. Our report adds to the few cases detected in adulthood.

Changing family roles and marital instability.

Science.gov (United States)

Kharchev, A G; Matskovskii, M S

1981-01-01

The causes of divorce and its social and ethical consequences in Socialist and capitalist societies are examined in an attempt to improve the effectiveness of research on divorce, with a focus on changes in the family structure and the role of women. The impact of divorce on the institution of marriage, the lives of the divorced partners, the upbringing and character of children, and the reproductive processes of society is explored. Traditional notions and expectations of marriage and of duties within the family are identified. The possibility of changing attitudes in order to adapt to conditions resulting from scientific and technological progress is considered, with emphasis on ways of combining women's employment and the performance of household functions. Problems associated with the application of data obtained in foreign empirical studies to situations in the Soviet Union are addressed, and Western sociological approaches to the study of family dynamics are critically examined.

Family functioning in the families of psychiatric patients: a comparison with nonclinical families.

Science.gov (United States)

Trangkasombat, Umaporn

2006-11-01

To examine family functioning in the families of psychiatric patients. Families of psychiatric patients and nonclinical families were compared. There were 60 families in each group. The instrument included a semistructured interview of family functioning and the Chulalongkorn Family Inventory (CFI), a self-report questionnaire designed to assess the perception of one's family. From the assessment by semistructured interview, 83.3% of psychiatric families and 45.0% of nonclinical families were found to be dysfunctional in at least one dimension. The difference was statistically significant (p dysfunctional dimensions in the psychiatric families was significantly higher than in the nonclinical control group, 3.5 +/- 1.9 and 0.98 +/- 1.5 respectively, p families were significantly lower than the control group, reflecting poor family functioning. The dysfunctions were mostly in the following dimensions: problem-solving, communication, affective responsiveness, affective involvement, and behavior control. Psychiatric families faced more psychosocial stressors and the average number of stressors was higher than the control families, 88.3% vs. 56.7% and 4.2 +/- 2.7 vs. 1.3 +/- 1.47 stressors respectively, p < 0.0001. Family functioning of psychiatric patients was less healthy than the nonclinical control. The present study underlined the significance of family assessment and family intervention in the comprehensive care of psychiatric patients.

Impact of Childhood Epilepsy on the Family

Directory of Open Access Journals (Sweden)

Kerim Fazlıoglu

2010-08-01

Full Text Available Whole family is affected when an illness appears in the family or when there is an uncertainty regarding the health of a member. Symptoms, therapy, course of the disorder, constraint of the daily activities and long term effects of childhood chronic diseases deeply impact health and structure of the families. Diagnosis of a chronic disease in children presents as a significant psychological and psychosocial risk factor to the parents and other family members. Despite these known facts, psychosocial problems of parents of epileptic children are often ignored and not even questioned. These parents frequently have to leave their jobs or ask for their elderly relatives to look after their children. This situation could lead to major financial and social problems, weakening in intrafamilial communication and disruption in family harmony. Childhood epilepsy brings a great strain on family’s resources as other chronic diseases do and alter the life of significant others. According to biopsychosocial model, schemas in family relations influence the psychological process of the family members while the biopsychosocial process of the sick individual affect the functionality of the family. In other words, epilepsy affects not only the sick individual but also the family union. The family has to face many problems after definite diagnosis of epilepsy. Majority of the studies conducted on this issue mainly focused on the quality of life and family relations of the sick child, whereas only a few studies searched for possible burden and resulting problems of family members caused by epilepsy. Physicians in charge should not only focus on physical and mental health of the sick children but also on the problems of other members in the family bearing in mind psychosocial influences of the disorder on them. Additionally, preventive methods should be administered to protect the family from developing mental health problems. A multidiscipline training program

DMD and BMD in the same family due to two distinct mutations

Energy Technology Data Exchange (ETDEWEB)

Morandi, L.; Mora, M.; Di Blasi, C.; Brugnoni, R. [National Inst. C. Besta, Milan (Italy)] [and others

1995-12-04

We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing. 24 refs., 5 figs.

Problems with veteran-family communication during operation enduring freedom/operation Iraqi freedom military deployment.

Science.gov (United States)

Hinojosa, Ramon; Hinojosa, Melanie Sberna; Högnäs, Robin S

2012-02-01

Twenty Reserve component (Army and Marines) and Army National Guard male veterans of Operational Enduring Freedom/Operation Iraqi Freedom discuss their deployment and postdeployment family reintegration experiences. A Grounded Theory approach is used to highlight some of the ways in which family miscommunication during deployment can occur. Communication with civilian family members is affected by the needs of operational security, technical problems with communication tools, miscommunication between family members, or because veterans have "nothing new to say" to family back home. These communication difficulties may lead to an initial gulf of understanding between veterans and family members that can cause family strain during postdeployment family reintegration. We end with a discussion of veteran family reintegration difficulties.

Genetics of intellectual disability in consanguineous families.

Science.gov (United States)

Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Herwig, Ralf; Hosseini, Masoumeh; Oppitz, Cornelia; Abedini, Seyedeh Sedigheh; Suckow, Vanessa; Larti, Farzaneh; Beheshtian, Maryam; Lipkowitz, Bettina; Akhtarkhavari, Tara; Mehvari, Sepideh; Otto, Sabine; Mohseni, Marzieh; Arzhangi, Sanaz; Jamali, Payman; Mojahedi, Faezeh; Taghdiri, Maryam; Papari, Elaheh; Soltani Banavandi, Mohammad Javad; Akbari, Saeide; Tonekaboni, Seyed Hassan; Dehghani, Hossein; Ebrahimpour, Mohammad Reza; Bader, Ingrid; Davarnia, Behzad; Cohen, Monika; Khodaei, Hossein; Albrecht, Beate; Azimi, Sarah; Zirn, Birgit; Bastami, Milad; Wieczorek, Dagmar; Bahrami, Gholamreza; Keleman, Krystyna; Vahid, Leila Nouri; Tzschach, Andreas; Gärtner, Jutta; Gillessen-Kaesbach, Gabriele; Varaghchi, Jamileh Rezazadeh; Timmermann, Bernd; Pourfatemi, Fatemeh; Jankhah, Aria; Chen, Wei; Nikuei, Pooneh; Kalscheuer, Vera M; Oladnabi, Morteza; Wienker, Thomas F; Ropers, Hans-Hilger; Najmabadi, Hossein

2018-01-04

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.

Cardiovascular causes of maternal sudden death. Sudden arrhythmic death syndrome is leading cause in UK.

Science.gov (United States)

Krexi, Dimitra; Sheppard, Mary N

2017-05-01

This study aims to determine the causes of sudden cardiac death during pregnancy and in the postpartum period and patients' characteristics. There are few studies in the literature. Eighty cases of sudden unexpected death due to cardiac causes in relation to pregnancy and postpartum period in a database of 4678 patients were found and examined macroscopically and microscopically. The mean age was 30±7 years with a range from 16 to 43 years. About 30% were 35 years old or older; 50% of deaths occurred during pregnancy and 50% during the postpartum period. About 59.18% were obese or overweight where body mass index data were available. The leading causes of death were sudden arrhythmic death syndrome (SADS) (53.75%) and cardiomyopathies (13.80%). Other causes include dissection of aorta or its branches (8.75%), congenital heart disease (2.50%) and valvular disease (3.75%). This study highlights sudden cardiac death in pregnancy or in the postpartum period, which is mainly due to SADS with underlying channelopathies and cardiomyopathy. We wish to raise awareness of these frequently under-recognised entities in maternal deaths and the need of cardiological screening of the family as a result of the diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

Outcomes Associated With Familial Versus Nonfamilial Atrial Fibrillation

DEFF Research Database (Denmark)

Gundlund, Anna; Olesen, Jonas Bjerring; Staerk, Laila

2016-01-01

BACKGROUND: We examined all-cause mortality and long-term thromboembolic risk (ischemic stroke, transient ischemic attack, systemic thromboembolism) in patients with and without familial atrial fibrillation (AF). METHODS AND RESULTS: Using Danish nationwide registry data, we identified all patients...

Searching for a Differentiated Asteroid Family: A Spectral Survey of the Massalia, Merxia, and Agnia Families

Science.gov (United States)

Thomas, Cristina A.; Moskovitz, Nicholas; Lim, Lucy F.; Trilling, David E.

2017-10-01

Asteroid families were formed by catastrophic collisions or large cratering events that caused fragmentation of the parent body and ejection of asteroidal fragments with velocities sufficient to prevent re-accretion. Due to these formation processes, asteroid families provide us with the opportunity to probe the interiors of the former parent bodies. Differentiation of a large initially chondritic parent body is expected to result in an “onion shell" object with an iron-nickel core, a thick olivine-dominated mantle, and a thin plagioclase/pyroxene crust. However, most asteroid families tend to show similar spectra (and therefore composition) among the members. Spectroscopic studies have observed a paucity of metal-like materials and olivine-dominated assemblages within Main Belt asteroid families.The deficit of olivine-rich mantle material in the meteorite record and in asteroid observations is known as the “Missing Mantle" problem. For years the best explanation has been the “battered to bits" hypothesis: differentiated parent bodies (aside from Vesta) were disrupted very early in the Solar System and the olivine-rich material was collisionally broken down over time. Alternatively, Elkins-Tanton et al. (2013) have suggested that previous work has overestimated the amount of olivine produced by the differentiation of a chondritic parent body.We have completed a visible and near-infrared wavelength spectral survey of asteroids in the Massalia, Merxia, and Agnia S-type Main Belt asteroid families. These families were carefully chosen for the spectroscopic survey because they have compositions most closely associated with a history of thermal metamorphism and because they represent a range of collisional formation scenarios. Additionally, members of the Merxia and Agnia families were identified as products of differentiation by Sunshine et al. (2004).Our spectral analyses suggest that the observed families contain products of partial differentiation. We will

Mutated CaV2.1 channels dysregulate CASK/P2X3 signaling in mouse trigeminal sensory neurons of R192Q Cacna1a knock-in mice.

Science.gov (United States)

Gnanasekaran, Aswini; Bele, Tanja; Hullugundi, Swathi; Simonetti, Manuela; Ferrari, Michael D; van den Maagdenberg, Arn M J M; Nistri, Andrea; Fabbretti, Elsa

2013-12-02

ATP-gated P2X3 receptors of sensory ganglion neurons are important transducers of pain as they adapt their expression and function in response to acute and chronic nociceptive signals. The present study investigated the role of calcium/calmodulin-dependent serine protein kinase (CASK) in controlling P2X3 receptor expression and function in trigeminal ganglia from Cacna1a R192Q-mutated knock-in (KI) mice, a genetic model for familial hemiplegic migraine type-1. KI ganglion neurons showed more abundant CASK/P2X3 receptor complex at membrane level, a result that likely originated from gain-of-function effects of R192Q-mutated CaV2.1 channels and downstream enhanced CaMKII activity. The selective CaV2.1 channel blocker ω-Agatoxin IVA and the CaMKII inhibitor KN-93 were sufficient to return CASK/P2X3 co-expression to WT levels. After CASK silencing, P2X3 receptor expression was decreased in both WT and KI ganglia, supporting the role of CASK in P2X3 receptor stabilization. This process was functionally observed as reduced P2X3 receptor currents. We propose that, in trigeminal sensory neurons, the CASK/P2X3 complex has a dynamic nature depending on intracellular calcium and related signaling, that are enhanced in a transgenic mouse model of genetic hemiplegic migraine.

On the highly inclined vW leptokurtic asteroid families

Science.gov (United States)

Carruba, V.; Domingos, R. C.; Aljbaae, S.; Huaman, M.

2016-11-01

vW leptokurtic asteroid families are families for which the distribution of the normal component of the terminal ejection velocity field vW is characterized by a positive value of the γ2 Pearson kurtosis, I.e. they have a distribution with a more concentrated peak and larger tails than the Gaussian one. Currently, eight families are known to have γ2(vW) > 0.25. Among these, three are highly inclined asteroid families, the Hansa, Barcelona, and Gallia families. As observed for the case of the Astrid family, the leptokurtic inclination distribution seems to be caused by the interaction of these families with node secular resonances. In particular, the Hansa and Gallia family are crossed by the s - sV resonance with Vesta, that significantly alters the inclination of some of their members. In this work we use the time evolution of γ2(vW) for simulated families under the gravitational influence of all planets and the three most massive bodies in the main belt to assess the dynamical importance (or lack of) node secular resonances with Ceres, Vesta, and Pallas for the considered families, and to obtain independent constraints on the family ages. While secular resonances with massive bodies in the main belt do not significantly affect the dynamical evolution of the Barcelona family, they significantly increase the γ2(vW) values of the simulated Hansa and Gallia families. Current values of the γ2(vW) for the Gallia family are reached over the estimated family age only if secular resonances with Vesta are accounted for.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Science.gov (United States)

Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P; Rogaeva, Ekaterina A; St George-Hyslop, Peter H; Bernardi, Giorgio; Kawarai, Toshitaka

2010-02-01

The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite amyotrophic lateral sclerosis according to the revised El Escorial criteria. The exclusion criterion was a diagnosis of hereditary spastic paraplegia with thin corpus callosum in line with an established protocol. Additional pathological and genetic evaluations were also performed. Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G > A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival. The countries of origin of these families were Italy, Brazil, Canada, Japan and Turkey. The variants seemed to be pathogenic since they co-segregated with the disease in all pedigrees, were absent in controls and were associated with amyotrophic lateral sclerosis neuropathology in one member of one of these families for whom central nervous system tissue was available. Our study indicates that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.

Montessori Early Childhood Teacher Perceptions of Family Priorities and Stressors

Directory of Open Access Journals (Sweden)

Ann Epstein

2015-11-01

Full Text Available Teachers of young children work closely with families. One component of teacher-family partnerships is teachers’ understanding of family priorities and stressors. This study examines Montessori early childhood (ages three through six teacher perceptions of family priorities and stressors through an analysis of responses to two parallel surveys.  Eighty teachers (37% of those who received the survey and forty-nine family members (representing a 55% response rate completed the survey.  Significant differences were found between teachers’ perceptions of four (of seven family priorities and families’ actual responses. Teachers ranked “making academic progress” as the most important of seven possible family priorities. However, families stated that “developing kindness” is the most important priority for their young children. No significant differences were found when comparing teacher rankings of family stressors with actual family responses. Montessori early childhood teachers ranked “not having enough time” as the most stressful of six possible stressors. Families confirmed that time pressures cause them the most stress. Maria Montessori’s recommendations for teachers and families are summarized. Recommendations for building stronger family partnerships in the context of Montessori’s philosophy, for example on-going self-reflection, are provided.             Keywords: Montessori, teacher-family partnerships, early childhood teacher perceptions

Habituation of evoked responses is greater in patients with familial hemiplegic migraine than in controls

DEFF Research Database (Denmark)

Hansen, Jakob Møller; Bolla, M; Magis, D

2011-01-01

have associated with disturbed ion homeostasis, altered cellular excitability, neurotransmitter release, and decreased threshold for cortical spreading depression. The common forms of migraine are characterized interictally by a habituation deficit of cortical and subcortical evoked responses that has...... been attributed to neuronal dysexcitability. FHM and the common forms of migraine are thought to belong to a spectrum of migraine phenotypes with similar pathophysiology, and we therefore examined whether an abnormal habituation pattern would also be found in FHM patients....

Communication Coaching: A Case Study of Family Caregiver Burden.

Science.gov (United States)

Wittenberg, Elaine; Ferrell, Betty; Koczywas, Marianna; Ferraro, Catherine

2017-04-01

Problematic communication among providers, patients, and their family members can affect the quality of patient care, causing stress to all parties involved and decreased opportunities for collaborative decision making.
. The purpose of this article is to present one case from a pilot study of a family caregiver intervention focused on communication. 
. The nurse-delivered communication intervention includes a written communication guide for family caregivers, as well as a one-time nurse communication coaching call. The call is aimed at identifying caregiver communication concerns, providing communication education, and role playing problematic communication.
. Psychological distress and caregiver confidence in communication were improved for the caregiver. Data presented from the case study demonstrate the need for family caregiver communication support and training and the potential benefits of such training.

Rhinocerebrocutaneous mucormycosis caused by Mucor species: A rare causation

Directory of Open Access Journals (Sweden)

Snehal Balvant Lunge

2015-01-01

Full Text Available Rhinocerebral mucormycosis is the most common form of mucormycosis occurring commonly in patients of diabetic ketoacidosis. Fungi of the order Mucorales belong to six families, among whom Rhizopus is the most common, while Mucor is a rare cause. We report a 45-year-old female with uncontrolled diabetes mellitus diagnosed to have rhinocerebrocutaneous mucormycosis caused by Mucor species. The diagnosis was confirmed on histology and culture. A high-index of suspicion is required for early diagnosis and timely initiation of therapy to optimize the outcome. Our patient succumbed to her infection.

SPG10 is a rare cause of spastic paraplegia in European families.

NARCIS (Netherlands)

Schule, R.; Kremer, H.P.H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; Warrenburg, B.P.C. van de; Schols, L.

2008-01-01

BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the

SPG10 is a rare cause of spastic paraplegia in European families

NARCIS (Netherlands)

Schuele, R.; Kremer, B. P. H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; van de Warrenburg, B. P.; Schoels, L.

Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. Objective: To determine the

Strengthening Family Practices for Latino Families.

Science.gov (United States)

Chartier, Karen G; Negroni, Lirio K; Hesselbrock, Michie N

2010-01-01

The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

A Developmental Perspective on Reentry: Understanding the Causes and Consequences of Family Conflict and Peer Delinquency during Adolescence and Emerging Adulthood.

Science.gov (United States)

Mowen, Thomas J; Boman, John H

2018-02-01

Despite the uniqueness of an incarceration experience for adolescents, there remains a shortage of research on adolescents and emerging adults who have been recently released from detention centers and are returning home during the transitional time period of "reentry". Drawing from the developmental literature, the current study uses a diverse (54% Black, 20% White, 26% Other Race) longitudinal survey of 337 male adolescents living in the United States to examine the interrelationships among crime, substance use, family conflict, and peer delinquency. A series of cross-lagged dynamic panel data models using four waves of data demonstrate that while family conflict and peer delinquency relate to increased offending and substance use, conflict in the family is a major driving force behind both future family conflict and peer delinquency. Overall, findings suggest that family conflict is an overlooked, but absolutely critical, factor in explaining deviance and deviant peer associations alike for adolescents and emerging adults who have been recently incarcerated and released.

Teleradiology for a family practice center

International Nuclear Information System (INIS)

Franken, E.A.; Driscoll, C.E.; Berbaum, K.S.; Smith, W.L.; Sato, Y.; Kao, S.C.; Steinkraus, L.

1988-01-01

This study evaluated the role of teleradiology (TR) in providing radiology consultation to a family practice center. All radiographs obtained in the center over a 5-month period were read twice independently: once by TR and once with the original radiograph. Accuracy was comparable for TR and plain films, with an average error rate of 7%. Effect of the radiologist's consultation on the family practitioner was substantial, causing changes in the confidence of diagnosis in over half of cases, and in treatment or prognosis in others. The immediate TR report tended to have a greater impact than the late consultation. The authors conclude that TR offers an acceptable mechanism for radiologic consultation

The Characteristics and Needs of Families Experiencing Homelessness

Science.gov (United States)

National Center on Family Homelessness (NJ1), 2011

2011-01-01

This fact sheet was developed to help you understand the scope, causes, and impact of homelessness on children and families. You are encouraged to use it as well as the publications cited in its footnotes as tools more about homelessness. (Contains 78 endnotes.)

45 CFR 260.54 - Do States have flexibility to grant good cause domestic violence waivers?

Science.gov (United States)

2010-10-01

... 45 Public Welfare 2 2010-10-01 2010-10-01 false Do States have flexibility to grant good cause domestic violence waivers? 260.54 Section 260.54 Public Welfare Regulations Relating to Public Welfare OFFICE OF FAMILY ASSISTANCE (ASSISTANCE PROGRAMS), ADMINISTRATION FOR CHILDREN AND FAMILIES, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL TEMPORAR...

Size-dependent modification of asteroid family Yarkovsky V-shapes

Science.gov (United States)

Bolin, B. T.; Morbidelli, A.; Walsh, K. J.

2018-04-01

Context. The thermal properties of the surfaces of asteroids determine the magnitude of the drift rate cause by the Yarkovsky force. In the general case of Main Belt asteroids, the Yarkovsky force is indirectly proportional to the thermal inertia, Γ. Aim. Following the proposed relationship between Γ and asteroid diameter D, we find that asteroids' Yarkovsky drift rates might have a more complex size dependence than previous thought, leading to a curved family V-shape boundary in semi-major axis, a, vs. 1/D space. This implies that asteroids are drifting faster at larger sizes than previously considered decreasing on average the known ages of asteroid families. Methods: The V-Shape curvature is determined for >25 families located throughout the Main Belt to quantify the Yarkovsky size-dependent drift rate. Results: We find that there is no correlation between family age and V-shape curvature. In addition, the V-shape curvature decreases for asteroid families with larger heliocentric distances suggesting that the relationship between Γ and D is weaker in the outer MB possibly due to homogenous surface roughness among family members.

The Andalusian Bipolar Family (ABiF) Study: Protocol and sample description.

Science.gov (United States)

Guzman-Parra, Jose; Rivas, Fabio; Strohmaier, Jana; Forstner, Andreas; Streit, Fabian; Auburger, Georg; Propping, Peter; Orozco-Diaz, Guillermo; González, Maria José; Gil-Flores, Susana; Cabaleiro-Fabeiro, Francisco Javier; Del Río-Noriega, Francisco; Perez-Perez, Fermin; Haro-González, Jesus; de Diego-Otero, Yolanda; Romero-Sanchiz, Pablo; Moreno-Küstner, Berta; Cichon, Sven; Nöthen, Markus M; Rietschel, Marcella; Mayoral, Fermin

2017-06-12

Here, we present the first description of the Andalusian Bipolar Family (ABiF) Study. This longitudinal investigation of families from Andalusia, Spain commenced in 1997 with the aim of elucidating the molecular genetic causes of bipolar affective disorder. The cohort has since contributed to a number of key genetic findings, as reported in international journals. However, insight into the genetic underpinnings of the disorder in these families remains limited. In the initial 1997-2003 study phase, 100 multiplex bipolar disorder and other mood disorder families were recruited. The ongoing second phase of the project commenced in 2013, and involves follow-up of a subgroup of the originally recruited families. The aim of the follow-up investigation is to generate: i) longitudinal clinical data; ii) results from detailed neuropsychological assessments; and iii) a more extensive collection of biomaterials for future molecular biological studies. The ABiF Study will thus generate a valuable resource for future investigations into the aetiology of bipolar affective disorder; in particular the causes of high disease loading within multiply affected families. We discuss the value of this approach in terms of new technologies for the identification of high-penetrance genetic factors. These new technologies include exome and whole genome sequencing, and the use of induced pluripotent stem cells or model organisms to determine functional consequences. Copyright © 2017 SEP y SEPB. Publicado por Elsevier España, S.L.U. All rights reserved.

A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

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Marco Ceccanti

2016-11-01

Full Text Available Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

DEFF Research Database (Denmark)

Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile

2010-01-01

with the 'rumpshaker mutation.' PATIENTS: A family with HSP caused by the 'rumpshaker mutation.' RESULTS: The patients showed nystagmus during infancy and had early onset of HSP. They had normal cognition, and cerebral MRI showed relatively unspecific white matter abnormalities on T2 sequences without clear...

Draft genome sequence of Fusicladium effusum, cause of pecan scab

Science.gov (United States)

Pecan scab, caused by the plant pathogenic fungus Fusicladium effusum, is the most destructive disease of pecan, an important specialty crop cultivated in several regions of the world. At this time, no other members of the family Venturiaceae (in which the pathogen resides) have been reported sequen...

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

DEFF Research Database (Denmark)

Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

2009-01-01

, and a gene conversion is the most likely mutational event causing this variant. Ten families had microcornea cataract, and a mutation was identified in eight of those. Most families displayed mixed phenotypes with nuclear, lamellar, and polar opacities and no apparent genotype-phenotype correlation emerged......PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presented...... together with an overview of the results in all families. METHODS: A combined screening approach of linkage analysis and sequencing of 17 cataract genes were applied to mutation analyses of total 28 families. RESULTS: The study revealed a disease locus in seven of eight families that were amenable...

Concurrent Peripheral Pathologies and Complex Regional Pain Syndrome Type 1 as Contributors to Acute Post-Stroke Shoulder Pain: A Case Report

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Seyed Majid Akhavan Hejazi

2012-04-01

Full Text Available Post-stroke shoulder pain is associated with either a peripheral or central pathology. However, most of the time, it is challenging to establish a cause-and-effect relationship between the suggested pathology and shoulder pain reported. We report a 66 year-old man who developed a right hemiplegic shoulder pain two months post stroke with initial investigations suggestive of peripheral pathologies. Pharmacological and non-pharmacological treatment did not improve his shoulder pain. Later he developed complex regional pain syndrome (CRPS of the right hand and the initial shoulder pain subsequently relieved following resolution of the CRPS.

Family emotional expressiveness and family structure

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Čotar-Konrad Sonja

2016-01-01

Full Text Available The present paper scrutinizes the relationship between family emotional expressiveness (i.e., the tendency to express dominant and/or submissive positive and negative emotions and components of family structure as proposed in Olson’s Circumplex model (i.e., cohesion and flexibility, family communication, and satisfaction in families with adolescents. The study was conducted on a sample of 514 Slovenian adolescents, who filled out two questionnaires: the Slovenian version of Family Emotional Expressiveness - FEQ and FACES IV. The results revealed that all four basic dimensions of family functioning were significantly associated with higher/more frequent expressions of positive submissive emotions, as well as with lower/less frequent expressions of negative dominant emotions. Moreover, expressions of negative submissive emotions explained a small, but significant amount of variance in three out of four family functioning variables (satisfaction, flexibility, and communication. The importance of particular aspects of emotional expressiveness for family cohesion, flexibility, communication, and satisfaction is discussed, and the relevance of present findings for family counselling is outlined.

An empirical investigation of job and family stressors amongst firefighters in the South African context

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R M Oosthuizen

2007-10-01

Full Text Available The general aim of the research was to theoretically and empirically study and evaluate job and family stressors amongst firefighters in the South African context. This also included an empirical evaluation of the stress symptoms of firefighters. The research was quantitative, consisting of a survey design. Three measuring instruments were used, namely the Experience of Work and Life Circumstances questionnaire, the Stress questionnaire as well as a biographical questionnaire. Task characteristics, organisational functioning, physical working conditions and job equipment, career and social matters, remuneration, fringe benefits and personnel policy were identified as causes of job stress originating within the work situation. Marital dysfunction and divorce, limited time with the family, problems with children, alcohol and drug abuse, lack of exercise, suicide, anger aimed at family members, physical and emotional exhaustion, lonely marital partners, unavailability to help the family when needed and depression were identified as causes of family stress arising outside the work situation.

CFSC (Community and Family Study Center) study finds birth rates falling everywhere - family planning (family planning) is a factor.

Science.gov (United States)

1978-08-01

The findings of the Community and Family Study Center study, based on estimated crude birthrates and total fertility rates for 1968 and 1975, indicate that there has been a significant reduction in fertility levels of both developed and developing countries. Despite regional variations, the estimates show an average proportional decline of 8.5% in total fertility rates between 1968 and 1975. Of the 148 nations studied, 113 were in developing regions and 35 in the developed regions. Information on important social and economic development factors, such as life expectancy, literacy, percent of labor force in agriculture, per capita income, and family planning program strength were gathered for each country. Analyses of these data are reported in "The Public Interest" (to be published) "Population Reference Bulletin," October 1978, and a paper presented at the 1978 Population Association of America Meetings in Atlanta, Georgia. The recent change in fertility affected 81% of the world's population, primarily the peoples of Asia, Latin America, and North America. The total fertility rate in the world in 1968 was 4635 and declined to 4068 in 1975. More substantial declines occurred in Asia and Latin America, where the number of fewer births 1000 women would bear under a given fertility schedule declined by 845 births and 617 births, respectively. As more research is conducted to investigate the underlying causes of this decline, it is likely to confirm the important role that family planning programs have had in developing nations. Although major improvements in the socioeconomic well-being of the developing areas continue as an essential goal, the need to maintain the organized provision of family planning services should not be understated.

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

Science.gov (United States)

Zhao, Z.; Hashiguchi, A.; Sakiyama, Y.; Okamoto, Y.; Tokunaga, S.; Zhu, L.; Shen, H.; Takashima, H.

2012-01-01

Objective: To identify a new genetic cause of distal hereditary motor neuropathy (dHMN), which is also known as a variant of Charcot-Marie-Tooth disease (CMT), in a Chinese family. Methods: We investigated a Chinese family with dHMN clinically, electrophysiologically, and genetically. We screened for the mutations of 28 CMT or related pathogenic genes using an originally designed microarray resequencing DNA chip. Results: Investigation of the family history revealed an autosomal dominant transmission pattern. The clinical features of the family included mild weakness and wasting of the distal muscles of the lower limb and foot deformity, without clinical sensory involvement. Electrophysiologic studies revealed motor neuropathy. MRI of the lower limbs showed accentuated fatty infiltration of the gastrocnemius and vastus lateralis muscles. All 4 affected family members had a heterozygous missense mutation c.2677G>A (p.D893N) of alanyl-tRNA synthetase (AARS), which was not found in the 4 unaffected members and control subjects. Conclusion: An AARS mutation caused dHMN in a Chinese family. AARS mutations result in not only a CMT phenotype but also a dHMN phenotype. PMID:22573628

CDKN2A-mutation hos en familie med arveligt malignt melanom

DEFF Research Database (Denmark)

Djursby, Malene; Wadt, Karin; Lorentzen, Henrik

2014-01-01

Malignant melanoma (MM) is a frequent form of cancer with increasing incidence. 6-10% of patients with MM report a family history of MM, and in most populations 2% of unselected cases of MM carry a CDKN2A mutation. tvWe present a family with 24 cases of MM in nine persons from several generations......, caused by a previously undescribed germ-line intronic mutation in CDKN2A. Through genetic counselling and genetic testing high-risk persons in the family are located and offered regular screening for MM....

Clinical and genetic investigation of families with type II Waardenburg syndrome.

Science.gov (United States)

Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing

2016-03-01

The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.

A family study of pathological gambling.

Science.gov (United States)

Black, Donald W; Monahan, Patrick O; Temkit, M'Hamed; Shaw, Martha

2006-03-30

The cause of pathological gambling (PG) is unknown. The current study was conducted to determine whether PG is familial, and to examine patterns of familial aggregation of psychiatric disorder. To that end, 31 case probands with DSM-IV PG and 31 control probands were recruited and interviewed regarding their first degree relatives (FDRs). Available and willing FDRs were directly interviewed with structured instruments of known reliability, and best estimate final diagnoses were blindly assigned for 193 case and 142 control relatives over age 18 years. The results were analyzed using logistic regression by the method of generalized estimating equations. The lifetime rates of PG and "any gambling disorder" were significantly greater among the relatives of case probands (8.3% and 12.4%, respectively) than among the control relatives (2.1% and 3.5%, respectively) (OR=3.36 for "any gambling disorder"). PG relatives also had significantly higher lifetime rates of alcohol disorders, "any substance use disorder," antisocial personality disorder (ASPD), and "any mental disorder". "Any gambling disorder," alcohol disorder, and "any substance use disorder" remained significant after a conservative Bonferroni correction. Interestingly, PG families were significantly larger than control families. We conclude that gambling disorders are familial and co-aggregate with substance misuse. The data are also suggestive that PG co-aggregates with ASPD. Further research on the heritability of PG is warranted.

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

Directory of Open Access Journals (Sweden)

Jia-Ze Tan

2016-01-01

Conclusions: We reported a SCCMS family of Chinese origin. In the family, classical clinical phenotype with phenotypic variability among different members was found. Genetic testing could help diagnose this rare disease.

Systematic analysis of γ-ray families, 1

International Nuclear Information System (INIS)

Semba, Hiroshi

1984-01-01

Atmospheric nuclear interactions caused by cosmic rays are observed in the Chacaltaya emulsion chamber experiment. A systematic analysis is made on 106 events (γ-ray families) with visible energy in the range of 100 - 300 TeV. A new method called 'decascading' is introduced to pick up a cluster of γ-rays and electrons in a family, so that the cluster is an air cascade from one parent γ-ray. The application of 'decascading' method to the family data gives information on original γ-rays produced at the atmospheric interactions. The results are compared with data from the traget interactions at lower energy range ΣEsub(γ)=20 - 100 TeV). The conclusion is that the characteristics of nuclear interactions at the concerned family energy range (E deg approximately equal to 1,000 TeV) are in accordance with those at the target interaction range (E deg approximately equal to 100 TeV), with increased ratio of frequencies of a heavy fire-ball (SH-quantum) to a small and usual fire-ball (H-quantum). (author)

Familial Gastric Cancers.

Science.gov (United States)

Setia, Namrata; Clark, Jeffrey W; Duda, Dan G; Hong, Theodore S; Kwak, Eunice L; Mullen, John T; Lauwers, Gregory Y

2015-12-01

Although the majority of gastric carcinomas are sporadic, approximately 10% show familial aggregation, and a hereditary cause is determined in 1%-3% cases. Of these, hereditary diffuse gastric cancer is the most recognized predisposition syndrome. Although rare, the less commonly known syndromes also confer a markedly increased risk for development of gastric cancer. Identification and characterization of these syndromes require a multidisciplinary effort involving oncologists, surgeons, genetic counselors, biologists, and pathologists. This article reviews the molecular genetics, clinical and pathologic features, surveillance guidelines, and preventive measures of common and less common hereditary gastric cancer predisposition syndromes. ©AlphaMed Press.

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

Science.gov (United States)

McWilliams, S; Nelson, T; Sudo, R T; Zapata-Sudo, G; Batti, M; Sambuughin, N

2002-07-01

Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. Haplotype analysis of the RYR1 gene area at 19q13 in the family with multiple MH members is an important tool in identification of genetic cause underlying this disease.

Lessons from whole-exome sequencing in MODYX families

DEFF Research Database (Denmark)

Dusatkova, Petra; Fang, Mingyan; Pruhova, Stepanka

2014-01-01

We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re...

Endocrine neoplasms in familial syndromes of hyperparathyroidism.

Science.gov (United States)

Li, Yulong; Simonds, William F

2016-06-01

Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. Complications of the associated neoplasms are the major causes of morbidities and mortalities in these familial syndromes, e.g., parathyroid carcinoma in HPT-JT syndrome; thymic, bronchial, and enteropancreatic neuroendocrine tumors in MEN1; and medullary thyroid cancer and pheochromocytoma in MEN2A. Because of the different underlying mechanisms of neoplasia, these familial tumors may have different characteristics compared with their sporadic counterparts. Large-scale clinical trials are frequently lacking due to the rarity of these diseases. With technological advances and the development of new medications, the natural history, diagnosis, and management of these syndromes are also evolving. In this article, we summarize the recent knowledge on endocrine neoplasms in three familial hyperparathyroidism syndromes, with an emphasis on disease characteristics, molecular pathogenesis, recent developments in biochemical and radiological evaluation, and expert opinions on surgical and medical therapies. Because these familial hyperparathyroidism syndromes are associated with a wide variety of tumors in different organs, this review is focused on those endocrine neoplasms with malignant potential. © 2016 Society for Endocrinology.

Correlations of sense of family coherence in adolescents

Directory of Open Access Journals (Sweden)

Minić Jelena Lj.

2016-01-01

Full Text Available Theoretical basis of the paper is a salutogenetic model of Aron Antonovski's model and belief that apart from the sense of coherence and sense of family coherence , as central sources of health, generalized and specific health sources are also important. The mentioned health sources Antonovski determines as different characteristics of an individual, group or environment which help mastering tension, which is caused by different stressors or serve for avoiding or suppress different stressors. The paper examines correlation of the sense of family coherence in adolescents with some variables which are included in the research as health sources (resistance sources. The aim of research was to examine the sense of family coherence in adolescents with: satisfaction with family (generally and globally, self-respect, family financial situation, educational level of their parents, success in education so far, number of family members and birth order. The sample consisted of adolescents of both sexes, aged 15 to 24 (N=360. Questionnaire of basic data, Scale for estimation of family coherence, Scale of family adaptation and Scale of self-respect are used for the research purposes. The data was processed by correlative analysis. Results obtained showed that there is a positive correlation of sense of family coherence in adolescents (both as a whole and as components with general and global satisfaction with family and self-respect, as well as correlation of components with family financial situation and school/academic success. Results obtained point to the conclusion that stronger feeling of family coherence is found in adolescents who are more satisfied with their families (generally and globally, those who posess higher self-respect, have better family financial situation and adolescents who have been more successful in their education. Total attitude of the adolescents towards their families is not in connection with the level of their parents education

What Causes Birth Order-Intelligence Patterns? The Admixture Hypothesis, Revived.

Science.gov (United States)

Rodgers, Joseph Lee

2001-01-01

Describes why birth order interests both parents and researchers, discussing what really causes apparent birth order effects on intelligence, examining problems with using cross-sectional intelligence data, and noting how to move beyond cross-sectional inferences. Explains the admixture hypothesis, which finds that family size is much more…

[Family with fever after cleaning a sea aquarium].

Science.gov (United States)

Snoeks, Lobke; Veenstra, Jan

2012-01-01

Improved aquarium techniques are enabling sea aquariums to imitate reality even better. This means that they sometimes contain known and unknown marine toxins. Aquarium keepers and their families may then develop potentially severe poisoning. A 37-year-old man presented at the Emergency Department with fever, hypotension and symptoms of a metallic taste in the mouth, nausea, headache, shivering and severe muscle cramps. Symptoms appeared after he had tried to remove a colony of Zoanthids (soft corals) from his aquarium by pouring boiling water over them. His wife (35-year-old) and two children (10-year-old twins) had also inhaled the offensive-smelling steam coming from the aquarium and had similar symptoms. On physical examination, all family members had low blood pressure and fever > 38.5 degrees Celsius. Blood analysis showed leucocytosis and an elevated CRP. We diagnosed palytoxin poisoning. All family members recovered within 48 hours after receiving supportive therapy only. Manipulation of certain soft corals found in sea aquariums can cause emission of palytoxin. This may cause a potentially severe episode of poisoning. When working in a sea aquarium protective measures should be taken. There is no specific therapy for or antidote to palytoxin poisoning and for this reason, treatment is supportive.

At Home: Family reintegration of trafficked Indonesian men

Directory of Open Access Journals (Sweden)

Rebecca Surtees

2018-04-01

Full Text Available Large numbers of Indonesian men migrate each year for work in construction, in factories and in agriculture, on plantations and on fishing boats. Many of them end up exploited in ways that constitute human trafficking, suffering violence, deprivation, restricted freedom and severe exploitation as well as long periods of separation from their families. This article explores the challenges faced by forty-nine Indonesian men reintegrating into their families and communities after having been trafficked. While many problems with the family were caused by economics, tensions also resulted from long separations, fractured relationships, and frustration and blame over ‘failed’ migration and unfulfilled expectations. Tensions were sometimes exacerbated when men faced recrimination and blame in their communities after return. Understanding the nature of and reasons for the problems that men faced after trafficking is vital in considering how trafficked men and their families can be supported to recover and reintegrate after trafficking.

Familial risks in testicular cancer as aetiological clues.

Science.gov (United States)

Hemminki, Kari; Chen, Bowang

2006-02-01

We used the nationwide Swedish Family-Cancer Database to analyse the risk for testicular cancer in offspring through parental and sibling probands. Among 0 to 70-year-old offspring, 4,586 patients had testicular cancer. Standardized incidence ratios for familial risk were 3.8-fold when a father and 7.6-fold when a brother had testicular cancer. Testicular cancer was associated with leukaemia, distal colon and kidney cancer, melanoma, connective tissue tumours and lung cancer in families. Non-seminoma was associated with maternal lung cancer but the risk was highest for the late-onset cases, providing no support to the theory of the in utero effect of maternal smoking on the son's risk of testicular cancer. However, the theory cannot be excluded but should be taken up for study when further data are available on maternal smoking. The high familial risk may be the product of shared childhood environment and heritable causes.

Altruism within the Family Reconsidered: Do Nice Guys Finish Last?

OpenAIRE

Bernheim, B Douglas; Stark, Oded

1988-01-01

In this paper, the authors criticize the view that the presence of altruism either increases the benefits of group interactions or improves the allocation of resources within families. They demonstrate first that altruism can alter the social utility possibility frontier in surprising and sometimes unfortunate ways. Next, they argue that, in a variety of situations, altruism entails exploitability and therefore causes family members to behav e in ways that leave all parties worse off. Specifi...

[Amblyopia. Epidemiology, causes and risk factors].

Science.gov (United States)

Elflein, H M

2016-04-01

Amblyopia is the main cause for mostly monocular, impaired vision in childhood. Treatment and prevention of amblyopia is only effective during childhood. Ophthalmological screening of children does not yet exist in Germany. The prevalence of amblyopia in Germany is 5.6%, which is higher than in reports from studies in Australia; however, the prevalence of amblyopia is not comparable in these studies due to different definitions of amblyopia and the inclusion/exclusion criteria of the study cohorts. At present it is unknown at what age ophthalmological screening should be carried out to prevent amblyopia and the appropriate frequency of screening examinations. Amblyopia is a disorder of the visual cortex that is due to suppression and deprivation of one eye leading to unilateral visual impairment. Approximately 50% of cases of amblyopia are caused by anisometropia, 25% by strabismus and in every sixth person by a combination of both. Other causes, such as unilateral congenital cataracts are relatively rare. A variety of factors, such as ocular pathologies, premature birth, familial disposition and general diseases are associated with an increased risk for amblyopia.

Improving productivity levels: family planning services for factory workers.

Science.gov (United States)

Darmokusumo, H V

1989-10-01

In May 1984, the Minister of Manpower in Indonesia, the Chairman of the BKKBN, and representatives of the employers' and workers' organizations of Indonesia issued a joint decree pledging that they would work together to enhance the implementation of the family planning program among workers in the organized sector. 1 objective of the decree is to improve workers' productivity and the standard of living of workers and their families by implementing a family planning program. 1 baseline survey and a clinic-based survey in 5 provinces revealed that 90% of women workers are between 21-40, or are of reproductive age, and are sexually active. Only about 50% are practicing family planning; the other 50% are afraid to practice family planning due to potential side effects of various methods. This fear was most often caused by negative rumors spread by unsatisfied family planning clients. Placing materials for family planning promotion such as instructional posters and video programs advertising contraceptive services in the work setting may increase knowledge and help alleviate some of this fear. Other studies of family planning services show that employees prefer female medical doctors or midwives as service providers, employees are willing to pay for services (but can only afford a small fee), and family planning service points should be near employees' work sites.

Familial neurohypophyseal diabetes insipidus

DEFF Research Database (Denmark)

Kvistgaard, Helene

2011-01-01

Familial neurohypophyseal diabetes insipidus (FNDI) is characterized by severe low-solute polyuria and polydipisa. The disease is caused by a deficient neurosecretion of the antidiuretic hormone arginine vasopressin (AVP). The hormone is normally synthesized by the magnocellular neurons...... as one sporadic case of early-onset diabetes insipidus. Genetic testing of the sporadic case of diabetes insipidus revealed a highly unusual mosaicism for a variation in the gene encoding the AVP receptor (AVPR2). This mosaicism had resulted in a partial phenotype and initial diagnostic difficulties...

Collective familial decision-making in times of trouble: intergenerational solidarity in Ghana.

Science.gov (United States)

McGadney-Douglass, Brenda F; Douglass, Richard L

2008-06-01

In post-colonial populations the retention of the nuclear family concept of collectivism as the basis for decision-making is associated with familial and cultural survival. Collectivism within familial contexts provides intergenerational access to experience, information, resources, and sound decision making during times of conflict or dealing with the consequences of poverty. In contemporary Ghana inter-ethnic wars and conflict have marginalized minority groups, causing substantial internal displacement of people. Poverty and cultural issues have caused a persistently high level of child malnutrition and mortality in all areas of Ghana, including urban centers where appropriate food is in abundance. In each of these circumstances the senior women, particularly the grandmothers, have been found to be essential for child survival, protecting the family from dissolution, and ensuring intergenerational cultural transmission. This paper discusses the place of collective decision-making processes of older African women in two studies in Ghana that assessed the: (1) indigenous methods used for understanding and arresting violent ethnic conflict by internally displaced women who survived the 1994/95 Guinea Fowl War; and (2) parenting and grandparenting strategies from families who insured the survival of children suffering from kwashiorkor, a severe form of childhood malnutrition. In this paper, findings from qualitative interview data will include narratives and illustrative cases.

Parental perceptions of the impact of Down syndrome in the family

Directory of Open Access Journals (Sweden)

Laura SERRANO FERNÁNDEZ

2018-03-01

Full Text Available Parenting a child with Down syndrome is a challenge, not only for parents, but also for the whole family system. The present research aims to analyse, from a qualitative point of view, the vision that the parents themselves have of the impact, both positive and negative, that the presence of a child with DS causes in the family. To this end, interviews with 10 participants (3 parents, 3 mothers and 4 professionals in the field of special education have been analysed. The results reveal that, although the diagnosis of SD in a child is an unexpected and stressful event for the family, the general perception of the family impact is positive.

The Conference of the Family Group (KGR as a Method of the Working with the Families in Danger of Social Exclusion (results of the work District Centre of the Family Help in Bytów

Directory of Open Access Journals (Sweden)

WIESŁAW LESNER

2017-10-01

Full Text Available Conference of the family group (KGR is a method of the work with the family leading families in functioning to positive changes, giving the possibility of constructive and effective solving her problems. The specificity of this method causes employing the wide circle of members of a family, as well as other persons important for the child: of acquaintances, of neighbors, of friends; on the established forum discussion is being entered into with the possibility of using the participation of professionals, granting technical consultation; plans concerning solving difficult situations of the child and the family are being formulated. The KGR method is applied in final years in, bringing unprecedented beneficial results. Thanks to conducting fifteen conferences of the family group in the district of Bytów over twenty children missed to institutions social and behavioral, and it stayed in related and unrelated foster families and around their families. Moreover the families received the psychological support, possibility to use the services of the assistant of the family and the assistant of the person with disabilities. Drawing fifteen social contracts up was a final result of held conferences. All members of a family are becoming involved in the problem solving, behind taken decisions lives concerning them have a sense of responsibility, they are establishing positive reports with employees of the system of the welfare. Apart from that a number of children is reducing at institutions social and behavioral, a time of staying foster children in substitute forms of the care is undergoing shortening, also a number of institutional intervention is reducing in families

Interventions for investigating and identifying the causes of stillbirth.

Science.gov (United States)

Wojcieszek, Aleena M; Shepherd, Emily; Middleton, Philippa; Gardener, Glenn; Ellwood, David A; McClure, Elizabeth M; Gold, Katherine J; Khong, Teck Yee; Silver, Robert M; Erwich, Jan Jaap Hm; Flenady, Vicki

2018-04-30

Identification of the causes of stillbirth is critical to the primary prevention of stillbirth and to the provision of optimal care in subsequent pregnancies. A wide variety of investigations are available, but there is currently no consensus on the optimal approach. Given their cost and potential to add further emotional burden to parents, there is a need to systematically assess the effect of these interventions on outcomes for parents, including psychosocial outcomes, economic costs, and on rates of diagnosis of the causes of stillbirth. To assess the effect of different tests, protocols or guidelines for investigating and identifying the causes of stillbirth on outcomes for parents, including psychosocial outcomes, economic costs, and rates of diagnosis of the causes of stillbirth. We searched Cochrane Pregnancy and Childbirth's Trials Register (31 August 2017), ClinicalTrials.gov and the WHO International Clinical Trials Registry Platform (ICTRP) (15 May 2017). We planned to include randomised controlled trials (RCTs), quasi-RCTs, and cluster-RCTs. We planned to include studies published as abstract only, provided there was sufficient information to allow us to assess study eligibility. We planned to exclude cross-over trials.Participants included parents (including mothers, fathers, and partners) who had experienced a stillbirth of 20 weeks' gestation or greater.This review focused on interventions for investigating and identifying the causes of stillbirth. Such interventions are likely to be diverse, but could include:* review of maternal and family history, and current pregnancy and birth history;* clinical history of present illness;* maternal investigations (such as ultrasound, amniocentesis, antibody screening, etc.);* examination of the stillborn baby (including full autopsy, partial autopsy or noninvasive components, such as magnetic resonance imaging (MRI), computerised tomography (CT) scanning, and radiography);* umbilical cord examination

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

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Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

2015-05-01

Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

Science.gov (United States)

van Beelen, Eline; Oonk, Anne M M; Leijendeckers, Joop M; Hoefsloot, Elisabeth H; Pennings, Ronald J E; Feenstra, Ilse; Dieker, Hendrik-Jan; Huygen, Patrick L M; Snik, Ad F M; Kremer, Hannie; Kunst, Henricus P M

2016-01-01

Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in a Dutch family, causing DFNA10. This study is focused on characterizing the hearing impairment in this family. Whole exome sequencing was performed in the proband. In addition, peripheral blood samples were collected from 23 family members, and segregation analyses were performed. All participants underwent otorhinolaryngological examinations and pure-tone audiometry, and 12 participants underwent speech audiometry. In addition, an extended set of audiometric measurements was performed in five family members to evaluate the functional status of the cochlea. Vestibular testing was performed in three family members. Two individuals underwent echocardiography to evaluate the nonsyndromic phenotype. The authors present a Dutch family with a truncating mutation in EYA4 causing a mid-frequency hearing impairment. This mutation (c.464del) leads to a frameshift and a premature stop codon (p.Pro155fsX). This mutation is the most N-terminal mutation in EYA4 found to date. In addition, a missense mutation, predicted to be deleterious, was found in EYA4 in two family members. Echocardiography in two family members revealed no signs of dilated cardiomyopathy. Results of caloric and velocity step tests in three family members showed no abnormalities. Hearing impairment was found to be symmetric and progressive, beginning as a mid-frequency hearing impairment in childhood and developing into a high-frequency, moderate hearing impairment later in life. Furthermore, an extended set of audiometric measurements was performed in five family members. The results were comparable to those obtained in patients with other sensory types of hearing impairments, such as patients with Usher syndrome type IIA and presbyacusis, and not to those obtained in patients with (cochlear