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Sample records for childhood nephrotic syndrome

  1. Long-term Outcomes of Childhood Onset Nephrotic Syndrome

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    Hjorten, Rebecca; Anwar, Zohra; Reidy, Kimberly Jean

    2016-01-01

    There are limited studies on long-term outcomes of childhood onset nephrotic syndrome (NS). A majority of children with NS have steroid-sensitive nephrotic syndrome (SSNS). Steroid-resistant nephrotic syndrome (SRNS) is associated with a high risk of developing end-stage renal disease. Biomarkers and analysis of genetic mutations may provide new information for prognosis in SRNS. Frequently relapsing and steroid-dependent NS is associated with long-term complications, including dyslipidemia, cataracts, osteoporosis and fractures, obesity, impaired growth, and infertility. Long-term complications of SSNS are likely to be under-recognized. There remain many gaps in our knowledge of long-term outcomes of childhood NS, and further study is indicated. PMID:27252935

  2. Glucocorticoid Treatment in Childhood Nephrotic Syndrome : weighting the cornerstone

    NARCIS (Netherlands)

    N. Teeninga (Nynke)

    2013-01-01

    textabstractUnderstanding which factors influence relapse patterns in childhood nephrotic syndrome is clinically very relevant and could aid in developing new treatment strategies. Clinicians are continuously challenged to reduce relapse rates and at the same time to avoid glucocorticoid toxicity. B

  3. Management of idiopathic nephrotic syndrome in childhood

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    Peco-Antić Amira

    2004-01-01

    Full Text Available The management of idiopathic nephrotic syndrome (INS in children includes immunosuppressive and symptomatic treatment. The response to corticosteroid therapy is the best prognostic marker of the disease. The majority of children with INS (about 85% are steroid-sensitive as they normalize proteinuria within 4 weeks of daily, oral prednisone administration. The most of steroid-sensitive patients (94% has minimal change of nephrotic syndrome, while the majority (80.5%-94.4% of those who are steroid-resistant has focal segmental glomerulosderosis or mesangioproliferative glomerulonephritis. Initial therapy of INS consists of 60 mg/m2/day prednisone daily for 4 weeks followed by 40 mg/m2 on alternate days for 4 weeks, thereafter decreasing alternate day therapy every month by 25% over the next 4 months. Thus, the overall duration of the initial cortico-steroids course is 6 months that may be significantly protective against the future development of frequent relapses. Approximately 30% of patients experience only one attack and are cured after the first course of therapy; 10-20% have only 3 or 4 steroid-responsive episodes before permanent cure; the remaining 40-50% of patients are frequent relapsers, or steroid-dependent. Standard relapse therapy consists of 60 mg/m2/ day prednisone until urine is protein free for at least 3 days, followed by 40 mg/m2 on alternate days for 4 weeks. The treatment of frequent-relapses and steroid-dependent INS includes several different regimens: maintenance (6 months alternate steroid therapy just above steroid threshold (0.1-0.5 mg/kg/ 48h, levamisole, alkylating agents (cyclophosphamide or chlorambucil or cyclosporine. The worse prognosis is expected in steroid-resistant patients who are the most difficult to treat. Renal biopsy should be performed in them. At present, there is no consensus on therapeutic regimen for steroid-resistant patients. The following immunosuppressive drugs have been used with varying

  4. Splenic hypofunction in the nephrotic syndrome of childhood

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    McVicar, M.I.; Chandra, M.; Margouleff, D.; Zanzi, I.

    1986-05-01

    The reticuloendothelial system, including the spleen, subserves important immunologic functions. Loss of splenic function results in an increased incidence of severe bacterial infections and is accompanied by thrombocytosis. Several nephrotic children were noted to have remarkably high platelet counts and predisposition to bacterial infection with encapsulated organisms. We, therefore, investigated the splenic function of nine children with primary nephrotic syndrome and measured the phagocytic function of the spleen by sequestration of Technetium-99-labelled heat-treated autologous RBC, administered intravenously. Four children had decreased splenic function. Repeat studies performed in two of these children after remission of the nephrotic syndrome gave normal results. There were six episodes of bacterial infection (3 peritonitis, 1 septic arthritis, 1 cellulitis, and 1 Escherichia coli urinary tract infection) among the four patients with decreased splenic function. There were no episodes of bacterial infection among the five nephrotic children with normal splenic function. Nephrotic patients with decreased splenic function had significantly increased platelet counts (921,000 +/- 196,000; mean +/- SEM) compared to those with normal function (435,000 +/- 46,000; P less than 0.001). Our findings suggest the possibility that some nephrotic children may have decreased splenic function in association with increased susceptibility to bacterial infections.

  5. Nephrotic Syndrome

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    ... use of certain legal and illegal drugs, or morbid obesity can lead to nephrotic syndrome. Symptoms Some kids ... KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All ...

  6. The non-immunosuppressive management of childhood nephrotic syndrome.

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    McCaffrey, James; Lennon, Rachel; Webb, Nicholas J A

    2016-09-01

    Idiopathic nephrotic syndrome (INS) is one of the most common renal diseases found in the paediatric population and is associated with significant complications, including infection and thrombosis. A high proportion of children enter sustained remission before adulthood, and therapy must therefore mitigate the childhood complications, while minimising the long-term risk to health. Here we address the main complications of INS and summarise the available evidence and guidance to aid the clinician in determining the appropriate treatment for children with INS under their care. Additionally, we highlight areas where no consensus regarding appropriate management has been reached. In this review, we detail the reasons why routine prophylactic antimicrobial and antithrombotic therapy are not warranted in INS and emphasise the conservative management of oedema. When pharmacological intervention is required for the treatment of oedema, we provide guidance to aid the clinician in determining the appropriate therapy. Additionally, we discuss obesity and growth, fracture risk, dyslipidaemia and thyroid dysfunction associated with INS. Where appropriate, we describe how recent developments in research have identified potential novel therapeutic targets. PMID:26556028

  7. Nephrotic Syndrome in Adults

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    ... glomeruli. Nephrotic syndrome can also be caused by systemic diseases, which are diseases that affect many parts of the body, such as diabetes or lupus. Systemic diseases that affect the kidneys are called secondary causes ...

  8. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  9. Complications of nephrotic syndrome

    OpenAIRE

    Se Jin Park; Jae Il Shin

    2011-01-01

    Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two c...

  10. Congenital nephrotic syndrome

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    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  11. Complications of nephrotic syndrome

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    Se Jin Park

    2011-08-01

    Full Text Available Nephrotic syndrome (NS is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two categories: disease-associated and drug-related complications. Disease-associated complications include infections (e.g., peritonitis, sepsis, cellulitis, and chicken pox, thromboembolism (e.g., venous thromboembolism and pulmonary embolism, hypovolemic crisis (e.g., abdominal pain, tachycardia, and hypotension, cardiovascular problems (e.g., hyperlipidemia, acute renal failure, anemia, and others (e.g., hypothyroidism, hypocalcemia, bone disease, and intussusception. The main pathomechanism of disease-associated complications originates from the large loss of plasma proteins in the urine of nephrotic children. The majority of children with MCNS who respond to treatment with corticosteroids or cytotoxic agents have smaller and milder complications than those with steroid-resistant NS. Corticosteroids, alkylating agents, cyclosporin A, and mycophenolate mofetil have often been used to treat NS, and these drugs have treatment-related complications. Early detection and appropriate treatment of these complications will improve outcomes for patients with NS.

  12. Complications of nephrotic syndrome.

    Science.gov (United States)

    Park, Se Jin; Shin, Jae Il

    2011-08-01

    Nephrotic syndrome (NS) is one of the most common glomerular diseases that affect children. Renal histology reveals the presence of minimal change nephrotic syndrome (MCNS) in more than 80% of these patients. Most patients with MCNS have favorable outcomes without complications. However, a few of these children have lesions of focal segmental glomerulosclerosis, suffer from severe and prolonged proteinuria, and are at high risk for complications. Complications of NS are divided into two categories: disease-associated and drug-related complications. Disease-associated complications include infections (e.g., peritonitis, sepsis, cellulitis, and chicken pox), thromboembolism (e.g., venous thromboembolism and pulmonary embolism), hypovolemic crisis (e.g., abdominal pain, tachycardia, and hypotension), cardiovascular problems (e.g., hyperlipidemia), acute renal failure, anemia, and others (e.g., hypothyroidism, hypocalcemia, bone disease, and intussusception). The main pathomechanism of disease-associated complications originates from the large loss of plasma proteins in the urine of nephrotic children. The majority of children with MCNS who respond to treatment with corticosteroids or cytotoxic agents have smaller and milder complications than those with steroid-resistant NS. Corticosteroids, alkylating agents, cyclosporin A, and mycophenolate mofetil have often been used to treat NS, and these drugs have treatment-related complications. Early detection and appropriate treatment of these complications will improve outcomes for patients with NS. PMID:22087198

  13. Radiation nephritis causing nephrotic syndrome

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    Jennette, J.C.; Ordonez, N.G.

    1983-12-01

    Clinical symptoms of acute radiation nephritis with nephrotic syndrome developed in a fifty-six-year-old woman after abdominal radiation therapy for an astrocytoma of the spinal cord. The diagnosis of radiation nephritis was confirmed by renal biopsy. To our knowledge, this is the first documented case of radiation nephritis associated with nephrotic syndrome.

  14. [Secondary nephrotic syndrome due to cardiovascular disease].

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    Hirayama, Tomoya; Takahashi, Fumihiko; Kikuchi, Kenjiro

    2004-10-01

    Cardiovascular diseases ralely evoke nephrotic syndrome. Especially hypertensive renal disease (nephroscrelosis) and renovascular hypertension occasionally may lead to nephrotic syndrome. We reported a case of nephrotic syndrome with renovascular hypertension successfully treated with candesartan. In eldery patients cardiovascular diseases are appeared. It is very important for clinicians to detect the mechanism of nephrotic syndrome caused by cardiovascular diseases. PMID:15500142

  15. Use of high-dose prednisolone to overcome rifampicin-induced corticosteroid non-responsiveness in childhood nephrotic syndrome

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    H Barman

    2016-01-01

    Full Text Available Inducing remission in nephrotic children on anti-tubercular therapy is difficult due to the increased metabolism of prednisolone induced by rifampicin. We report a child with nephrotic syndrome treated successfully with an increased dose of steroids without discontinuing anti-tubercular therapy.

  16. Long-term treatment of childhood refractory and steroid dependent nephrotic syndrome with Cyclosporin A

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    Madani A

    2002-07-01

    Full Text Available Background: Cyclosporin A (CsA is now commonly used in the management of children with steroid-dependent and steroid resistant nephoitic syndrome. It has been reported to be effective in maintaining remission in 70-100 percent of patients with SDNS but somewhat SRNS 0-100 percent. The aim of this study was to evaluate the efficacy of long-term (CsA in children with refractory nephrotic syndrome (RNS and steroid dependent nephrotic syndrome (SDNS. Materials and Methods: The long-term effect of (CsA in 91 Iranian children aged 3 months to 11 years (54 with RNS and 37 with SDNS was assessed between 1984 and 1999. Eighty of 91 children received renal biopsy prior to introduction of (CsA, and the other 11 patients had not consent for kidney biopsy. If the patients did not show remission aftre receiving 3-6 months of (CsA, the medication was discontinued. Results: All patient were treated with (CsA in combination with low dose alternate day prednisolone. In children with RNS and SDNS, therapy with (CsA induced, remission in 25 of 54 (46.2 percent and 27 of 37 (73 percent respectively (P<0.02. Of the 32 patients with minimal change disease (MCD, 23 (72 percent responded to therapy, compared with 4 of 18 (22 percent with focal segmental glomerulosclerosis (FSGS (P<0.005. Twenty-four (48 percent of 50 who entered complete remission, had relapse 1-12 months after cessation of (CsA. The duration between the onset of nephrotic syndrome (NS and administration of (CsA and sexuality of patients had no effect in result of treatment. Side effects occurred in 25 patients (27.4 percent. No patients exhibited raised transaminases, 8 (8.7 percent of the children developed hirsutism, 7 (7.6 percent hypertension, 7 (7.6 percent gingival hyperplasia, (2.2 percent neurological toxicity and 1 (1 percent increase in serum creatinine. Conclusion: Our findings suggest that (CsA can be used to induce a complete remission in a significant proportion of patients with RNS and

  17. [Nephrotic syndrome associated with ampulloma].

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    López-Navidad, A; Colomina, J; Domingo, P; Franco, M; Algaba, F

    1989-06-01

    A patient is reported who presented simultaneously classic nephrotic syndrome and adenocarcinoma of the Vater ampulla. Morphological study of the renal biopsy revealed changes characteristic of membranous glomerulonephritis and subepithelial deposits. These deposits stained specifically for IgG and C'3 with a granular pattern, but deposits of CEA-antiCEA immune complexes were not found in glomerular capillaries. The association of nephrotic syndrome with lymphoproliferative diseases and a large variety of solid tumors, like carcinoma of the breast, bronchogenic, colon and stomach has been communicated, but the present case constitutes the first known association with adenocarcinoma of the Vater ampulla. PMID:2772382

  18. The Genetics of Nephrotic Syndrome.

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    Rheault, Michelle N; Gbadegesin, Rasheed A

    2016-03-01

    Nephrotic syndrome (NS) is a common pediatric kidney disease and is defined as massive proteinuria, hypoalbuminemia, and edema. Dysfunction of the glomerular filtration barrier, which is made up of endothelial cells, glomerular basement membrane, and visceral epithelial cells known as podocytes, is evident in children with NS. While most children have steroid-responsive nephrotic syndrome (SSNS), approximately 20% have steroid-resistant nephrotic syndrome (SRNS) and are at risk for progressive kidney dysfunction. While the cause of SSNS is still not well understood, there has been an explosion of research into the genetic causes of SRNS in the past 15 years. More than 30 proteins regulating the function of the glomerular filtration barrier have been associated with SRNS including podocyte slit diaphragm proteins, podocyte actin cytoskeletal proteins, mitochondrial proteins, adhesion and glomerular basement membrane proteins, transcription factors, and others. A genetic cause of SRNS can be found in approximately 70% of infants presenting in the first 3 months of life and 50% of infants presenting between 4 and 12 months, with much lower likelihood for older patients. Identification of the underlying genetic etiology of SRNS is important in children because it allows for counseling of other family members who may be at risk, predicts risk of recurrent disease after kidney transplant, and predicts response to immunosuppressive therapy. Correlations between genetic mutation and clinical phenotype as well as genetic risk factors for SSNS and SRNS are reviewed in this article. PMID:27617138

  19. Nephrotic syndrome and hepatitis in early syphilis.

    OpenAIRE

    Tang, A. L.; Thin, R N; Croft, D N

    1989-01-01

    A 54 year old man presented with features of acute hepatitis and the nephrotic syndrome. A diagnosis of active syphilis was only made by chance after extensive investigation. Syphilis should be considered in the differential diagnosis of both acute hepatitis and the nephrotic syndrome occurring separately as well as together.

  20. Congenital nephrotic syndrome.

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    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  1. Childhood Nephrotic Syndrome

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    ... Research Training & Career Development Grant programs for students, postdocs, and faculty Research at NIDDK Labs, faculty, and ... diabetes, digestive and liver diseases, kidney diseases, weight control and nutrition, urologic diseases, endocrine and metabolic diseases, ...

  2. Childhood Nephrotic Syndrome

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    ... specially trained technician performs the procedure in a health care provider’s office, an outpatient center, or a hospital. A radiologist—a doctor who specializes in medical imaging—interprets ...

  3. Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

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    Al-Eisa AA

    2016-08-01

    Full Text Available Amal A Al-Eisa, Mohammad Z Haider Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait Background: Vitamin D activity is controlled by vitamin D receptors (VDRs, which are affected by different genetic polymorphisms, including TaqI and Apal restriction fragment length polymorphisms (RFLPs, which have been reported to be associated with several diseases. The aim of this study was to determine the frequency and the association of VDR gene polymorphisms with idiopathic nephrotic syndrome (INS and steroid responsiveness in Kuwaiti children. Subjects and methods: Genotypes of the VDR TaqI gene polymorphism and the Apal gene polymorphism were analyzed using polymerase chain reaction-RFLP in 78 INS patients and 56 matched controls. Results: A total of 78 INS (62 steroid sensitive [SS] and 16 steroid resistant [SR] patients with a mean age of 6.5±3.1 years were studied. Male:female ratio was 2:1. The TT genotype of VDR–TaqI polymorphism was detected in 41% of the INS patients compared to 42% of the controls (P=0.816. The heterozygous TC genotype was detected in 33% of INS patients compared to 46% of the controls (P=0.462. The CC genotype was detected in 25.6% of INS patients and 21% of the controls (P=0.719. The C-allele frequency, in its homozygous and heterozygous forms, was 71% in INS patients compared to 63% in the controls (P=0.342. Similarly, no significant difference was detected in terms of VDR–Apal polymorphism in INS patients compared to the controls for all the three genotypes (P=0.76, P=0.207, and P=0.364, respectively, for GG, GT, and TT genotypes. The T-allele frequency, in its homozygous and heterozygous forms, was 89% in INS patients compared to 93% in the controls (P=0.076. No significant difference was found in any of the allele frequencies between SS and SR subgroups when compared with each other or when compared to the controls. Conclusion: Our data do not support the use of VDR–TaqI or

  4. Risk of Nephrotic Syndrome following Enteroviral Infection in Children: A Nationwide Retrospective Cohort Study

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    Lin, Jiun-Nong; Lin, Cheng-Li; Yang, Chi-Hui; Lin, Ming-Chia; Lai, Chung-Hsu; Lin, Hsi-Hsun; Kao, Chia-Hung

    2016-01-01

    Purpose Nephrotic syndrome is a common chronic illness encountered during childhood. Infections have been identified as a cause of nephrotic syndrome. The aim of this study was to evaluate the association between enteroviral infection and nephrotic syndrome. Methods A nationwide retrospective cohort study was conducted by analyzing data from the National Health Insurance Research Database in Taiwan. Children aged enterovirus-infected children were randomly selected as the comparison cohort. The primary endpoint was the occurrence of nephrotic syndrome. Methods This study included 280,087 enterovirus-infected children and 280,085 non-enterovirus-infected children. The mean age of the enterovirus-infected children was 2.38 years, and 53.7% of these children were boys. The overall incidence densities of nephrotic syndrome for enterovirus- and non-enterovirus-infected children were 2.65 and 2.21 per 10,000 person-years, respectively. The enterovirus-infected cohort had a higher cumulative incidence of nephrotic syndrome than did the non-enterovirus-infected cohort (log-rank test, p = 0.01). Multivariable analyses revealed that children with enteroviral infection were significantly associated with an increased risk of nephrotic syndrome compared with those without enteroviral infection (adjusted hazard ratio, 1.20; 95% confidence interval, 1.04–1.39; p = 0.01), particularly in children infected with coxsackievirus. Subgroup analyses revealed that enterovirus-infected girls, children of blue-collar workers, and children without allergies had a higher risk of nephrotic syndrome than did children in the non-enterovirus-infected cohort. Conclusion This study revealed a significant association between enteroviral infection and nephrotic syndrome. Additional studies elucidating the role and pathogenesis of enterovirus in nephrotic syndrome are warranted. PMID:27508414

  5. Congenital nephrotic syndrome. Gallium-67 imaging

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    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-11-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented.

  6. OCCURRENCE OF URINARY TRACT INFECTION IN CHILDREN WITH NEPHROTIC SYNDROME IN A TERTIARY CARE HOSPITAL

    OpenAIRE

    Vishwanath; Jaidev Mangalore; Mario Joseph

    2015-01-01

    BACKGROUND Nephrotic Syndrome (NS) is among the most common chronic kidney diseases occurring in childhood. Defense mechanisms are impaired in patients with NS. Immuno-compromised status of NS can result in increased susceptibility to various infections, which could be potentially serious and life-threatening without prompt diagnosis and treatment. The occurrence of Urinary Tract Infection (UTI) is about 30% in children with nephrotic syndrome; however, it often goes undiagnos...

  7. Nephrotic syndrome-induced thromboembolism in adults

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    Al-Azzawi, Hasan F.; Obi, Onyekachi C.; Safi, Javeryah; Song, Mingchen

    2016-01-01

    Nephrotic syndrome (NS) is a well-defined syndrome characterized by the presence of nephrotic range of proteinuria, hypoalbuminemia, and hyperlipidemia. Although venous thromboembolism (VTE) is a well-reported complication associated with NS, the incidence, prevalence, risk factors, treatment options, and preventative strategies are not well-established. Thromboembolic phenomena in nephrotic patients are postulated to be a result of the urinary loss of antithrombotic factors by affected kidneys and increased production of prothrombotic factors by the liver. Most cases of VTE associated with NS reported in the literature have a known diagnosis of NS. We report a case of a young female presenting with dyspnea and a pulmonary embolism. She was found to have NS and right renal vein thrombosis. We review the available literature to highlight the best approach for clinicians treating VTE in patients with NS.

  8. Rheumatoid disease presenting as a nephrotic syndrome.

    OpenAIRE

    Short, C. D.; Solomon, L R; Mallick, N. P.; Mackay, J. D.

    1988-01-01

    A 62 year old man with no relevant previous history presented with a nephrotic syndrome. Renal biopsy showed a membranous glomerulopathy and coincident investigation showed high serum titres of rheumatoid factors. It was not until some months later that he developed articular and extra-articular manifestations of rheumatoid arthritis.

  9. Histopathological diagnosis and outcome of paediatric nephrotic syndrome

    International Nuclear Information System (INIS)

    Objective: To determine the histological picture and outcome of treatment in cases of childhood nephrotic syndrome who needed renal biopsy. Subjects and Methods: Children suffering from nephrotic syndrome who had atypical features at presentation were initially or late non-responders; frequent relapsers on > 1 mg kg/day and were steroid dependent or frequently relapsed on < 1 mg kg/day but developed steroid toxicity were included. Renal biopsy was performed in these patients. Treatment was administered according to the histopathology reports. Prednisolone 60 mg /m/sup 2//day followed after response by 40 mg /m/sup /2 on alternate days (AD) which was later tapered off. In minimal change nephrotic syndrome (MCNS) with frequent relapses cyclophosphamide, cyclosporine and levimisole were used. For steroid resistant focal segmental glomerulosclerosis (FSGS) intravenous pulses of methylprednisolone and cyclosporine were also given. These patients were followed to see the response of the therapy. Results: The commonest diagnosis was focal segmental glomerulosclerosis (FSGS) (42%) followed by minimal change disease (MCNS) (22%), membranoproliferative or mesangiocapillary glomerulonephritis (MPGN) (14%) and Mesangioproliferative glomerulonephritis (Mes PGN) (12%). There were 6% cases of membranous nephropathy and 4% of diffuse proliferative glomerulonephritis. On presentation, 40% had hematuria, 20% were found to be hypertensive, 12% patients had renal insufficiency and in 40% C3 level was low. Majority of the patients with MPGN and FSGS had atypical features whereas none of the patients with membranous nephropathy had any of these features. Thirty percent cases each of FSGS and MCNS were responders. Among non-responders there were 4 cases of FSGS and one of MPGN. Conclusion: FSGS was the commonest histology in cases of childhood nephrotic syndrome that needed renal biopsy. Highest frequency of atypical features was seen in MPGN and FSGS. (author)

  10. Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

    Science.gov (United States)

    Al-Eisa, Amal A; Haider, Mohammad Z

    2016-01-01

    Background Vitamin D activity is controlled by vitamin D receptors (VDRs), which are affected by different genetic polymorphisms, including TaqI and Apal restriction fragment length polymorphisms (RFLPs), which have been reported to be associated with several diseases. The aim of this study was to determine the frequency and the association of VDR gene polymorphisms with idiopathic nephrotic syndrome (INS) and steroid responsiveness in Kuwaiti children. Subjects and methods Genotypes of the VDR TaqI gene polymorphism and the Apal gene polymorphism were analyzed using polymerase chain reaction-RFLP in 78 INS patients and 56 matched controls. Results A total of 78 INS (62 steroid sensitive [SS] and 16 steroid resistant [SR]) patients with a mean age of 6.5±3.1 years were studied. Male:female ratio was 2:1. The TT genotype of VDR–TaqI polymorphism was detected in 41% of the INS patients compared to 42% of the controls (P=0.816). The heterozygous TC genotype was detected in 33% of INS patients compared to 46% of the controls (P=0.462). The CC genotype was detected in 25.6% of INS patients and 21% of the controls (P=0.719). The C-allele frequency, in its homozygous and heterozygous forms, was 71% in INS patients compared to 63% in the controls (P=0.342). Similarly, no significant difference was detected in terms of VDR–Apal polymorphism in INS patients compared to the controls for all the three genotypes (P=0.76, P=0.207, and P=0.364, respectively, for GG, GT, and TT genotypes). The T-allele frequency, in its homozygous and heterozygous forms, was 89% in INS patients compared to 93% in the controls (P=0.076). No significant difference was found in any of the allele frequencies between SS and SR subgroups when compared with each other or when compared to the controls. Conclusion Our data do not support the use of VDR–TaqI or –Apal gene polymorphisms as genetic markers of INS nor do they predict steroid responsiveness in children with the disease.

  11. Two cases of nephrotic syndrome with different etiologies

    Directory of Open Access Journals (Sweden)

    Sanjay K Mandal

    2013-01-01

    Full Text Available There are various causes of secondary nephrotic syndrome. Finding an underlying etiology in a case of nephrotic syndrome or subnephrotic range proteinuria can markedly alter the therapeutic options and disease course. We describe two cases of secondary nephrotic syndrome. The first case was a 22-year-old male with pulmonary tuberculosis with nephrotic syndrome secondary to renal amyloidosis, whereas the second case was a 17-year-old male with chronic hepatitis B-associated nephrotic syndrome. It is important, especially in developing countries, to be aware that tuberculosis and infections like hepatitis B, C, etc. continue to be part of the differential diagnosis of secondary nephrotic syndrome in adolescents and young adults.

  12. Role of reactive oxygen species in pathogenesis of nephrotic syndrome

    OpenAIRE

    Ghodake, Santoshi R.; Suryakar, A. N.; Ankush, R. D.; Shaikh, K.; Katta, A. V.

    2010-01-01

    Nephrotic syndrome is the common chronic disorder characterized by alteration of permeability of the glomerular capillary wall, resulting in its inability to restrict the urinary loss of proteins. Nephrotic syndrome is characterized by heavy proteinuria, hypoalbuminemia, hyperlipidemia associated with peripheral edema. The molecular basis of glomerular permselectivity remains largely unknown. In recent years it has been proposed that Nephrotic syndrome is a consequence of an imbalance between...

  13. Renal artery embolization in severe nephrotic syndrome.

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    Solak, Yalcin; Koc, Osman; Ucar, Ramazan; Ozbek, Orhan; Ergenc, Hasan; Gaipov, Abduzhappar; Turk, Suleyman

    2016-07-01

    Introduction Severe nephrotic syndrome is associated with increased morbidity and mortality. Renal artery embolization (RAE) has been used in a number of renal diseases such as renal tumors, arteriovenous fistulas etc. However, data regarding benefits of RAE in patients with symptomatic severe proteinuria is limited. We decided to evaluate role of RAE in the setting of severe symptomatic nephrotic syndrome. Methods Eight patients who had undergone transcatheter renal artery embolization with polyvinyl alcohol (PVA) were included. Clinico-demographic characteristics as well as baseline laboratory data including level of proteinuria, serum albumin, C-reactive protein and LDL cholesterol levels were recorded for each patient. After RAE, outpatient clinic control laboratory values were also assessed. Findings All patients except one underwent bilateral RAE (four simultaneous or three sequential). Two patients experienced postembolization syndrome characterized by flank pain, fever, and leukocytosis, which was self-limited and responded to analgesics in all patients. There was no technical complications associated with RAE procedure. All patients became anuric except one. Serum albumin levels increased and serum LDL-cholesterol levels decreased considerably in treated patients. Discussion Renal artery embolization with the purpose of amelioration in nephrotic syndrome complications was effective and free of major technical complications in our patients. PMID:26833695

  14. [Effectiveness of dietetic treatment in nephrotic syndrome].

    Science.gov (United States)

    Calleja Fernández, A; López Gómez, J J; Vidal Casariego, A; Cano Rodríguez, I; Ballesteros Pomar, M D

    2009-01-01

    We present the case of a male patient suffering from a primary amyloidosis and a nephrotic syndrome who came to dietotherapy clinic. In the first visit we made a nutritional record including an anthropometric evaluation, body composition, biochemistry, and food intake. The patient had an excess of body water, proteinuria, low plasma protein, albumin, prealbumin and HDL cholesterol levels, and high concentrations of total cholesterol, LDL and triglycerides. The consumption of protein and sodium was higher than the recommendation. An individualized diet was made. Six months later, his weight and the excess of body water decreased, but the fat free mass remained unchanged. The levels of albumin and prealbumin increased, the proteinuria decreased. Total cholesterol, LDL and triglycerides decreased until normal levels. Dietetary treatment in nephrotic syndrome is effective to decrease proteinuria, improve cholesterol and triglycerides levels, and to prevent malnutrition. PMID:20049380

  15. Treatment of anemia of nephrotic syndrome with recombinant erythropoietin

    NARCIS (Netherlands)

    Gansevoort, RT; Vaziri, ND; deJong, PE

    1996-01-01

    Nephrotic syndrome has been recently shown to cause erythropoietin (EPO) deficiency in humans and experimental models. However, efficacy and safety of recombinant EPO (rEPO) in the treatment of the associated anemia has not been previously investigated. We report a patient with nephrotic syndrome an

  16. The Effect of a Gluten-Free Diet in Children With Difficult-to-Manage Nephrotic Syndrome

    Science.gov (United States)

    Lemley, Kevin V.; Faul, Christian; Schramm, Karla; Meyers, Kevin; Kaskel, Frederick; Dell, Katherine M.; Gipson, Debbie S.; Gibson, Keisha; Trachtman, Howard

    2016-01-01

    Case reports have linked childhood nephrotic syndrome to food sensitivity, including gluten. We report our experience with 8 children (6 boys, 2 girls; age at implementation of special diet 2–14 years) with difficult-to-manage nephrotic syndrome who were placed on a gluten-free diet for 3.4 ± 4.3 years (range, 0.6–14 years) and who had clinical improvement enabling reduction or discontinuation in steroid dosage. PMID:27338701

  17. Concurrence of Bartter syndrome and minimal change nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    SHEN Hui-jun; DAI Yu-wen; MAO Jian-hua; LIU Ai-min

    2009-01-01

    @@ Nephrotic syndrome(NS)is a common disease in children with a group of symptoms including heavy proteinuria(≥50 mg/kg per 24 hours),hypoalbuminaemia,hypercholesterolaemia and edema.Bartter syndrome(BS)is a clinically and genetically heterogenous kidney disease characterized by hypokalemia,hypochloremic metabolic alkalosis,obvious increase of rennin,angiotesin II,and normal blood pressure.

  18. Steroid-responsive and nephrotic syndrome and allergy: clinical studies.

    OpenAIRE

    Meadow, S R; Sarsfield, J K

    1981-01-01

    Eighty-four children with steroid-responsive nephrotic syndrome who had been shown to have, or were believed to have, minimal change histology were investigated to study the relationship between steroid-responsive nephrotic syndrome and allergy. They were found to have a greater incidence of the standard atopic disorders--asthma, eczema, recurrent urticaria, and hay fever. Their 1st-degree relatives had an increased incidence of these atopic disorders too. A nasal discharge was a frequent pre...

  19. A whitened face woman with nephrotic syndrome.

    Science.gov (United States)

    Soo, Yannie Oi-Yan; Chow, Kai-Ming; Lam, Christopher Wai-Kei; Lai, Fernand Mac-Moune; Szeto, Cheuk-Chun; Chan, Michael Ho-Ming; Li, Philip Kam-Tao

    2003-01-01

    Skin whitening cream from developing countries is a recognized source of chronic mercury poisoning. The authors report on a 34-year-old Indonesian domestic helper who presented with nephrotic syndrome secondary to membranous nephropathy. It was subsequently found that she used a skin whitening cream regularly that was found to contain a mercury level of almost 2,000 times above the allowable limit. Her blood and urinary mercury levels were both grossly elevated. Her symptoms improved after she stopped using the cream. However, she returned to her home country before chelating therapy could be arranged. Because mercury-containing skin products are still widely available in developing countries, the use of these products should be considered a possible cause of membranous nephropathy in immigrants from those countries. PMID:12500245

  20. [Nephrotic syndrome revealed by pulmonary embolism: about four cases].

    Science.gov (United States)

    Chaudesaygues, E; Grasse, M; Marchand, L; Villar, E; Aupetit, J-F

    2014-11-01

    Nephrotic syndrom is an association of proteinuria>3g/d or 50mg/kg/d, an hypoalbuminemiadiabetes, high blood pressure and amyloidosis. We present four cases about nephrotic syndrome after thromboembolic disease. In every case, patients show a pulmonary embolism symptomatic of a nephrotic syndrom, whose diagnostic could be delayed up to six months after first pulmonary symptoms. This raised the problem of renal biopsy in these patients who need anticoagulation. In minimal change nephrosis, without hematuria, high blood pressure or renal dysfonction, a corticosteroid therapy test could be done assuming that is corticosensitive minimal glomerular injury. In every case, anticoagulation course must be completed and maintained in case of patent nephrotic syndrom with an albuminemia under 20g/L. In case of pulmonary embolism or deep vein thrombosis, idiopathic-looking, a nephrotic syndrome must be sought-after. The two diagnosis ways are the proteinuria on the urine dipstick and the hypoproteinemia on usual biology. The main mechanism is the coagulation factor leak, side effect of the nephrotic syndrom, notably because of the antithrombin III. PMID:25281996

  1. Steroid-responsive and nephrotic syndrome and allergy: clinical studies.

    Science.gov (United States)

    Meadow, S R; Sarsfield, J K

    1981-07-01

    Eighty-four children with steroid-responsive nephrotic syndrome who had been shown to have, or were believed to have, minimal change histology were investigated to study the relationship between steroid-responsive nephrotic syndrome and allergy. They were found to have a greater incidence of the standard atopic disorders--asthma, eczema, recurrent urticaria, and hay fever. Their 1st-degree relatives had an increased incidence of these atopic disorders too. A nasal discharge was a frequent precursor or an accompaniment of nephrotic syndrome, but an overt atrophic disorder at the same time was rare. Such disorders, related to relapse, occurred in only 5 children; in none was it a consistent or recurrent happening at the time of each relapse. No example of pollen hypersensitivity nephrotic syndrome was found, and no particular allergen could be identified with certainty as responsible for a child's nephrotic syndrome. No association was found between the time of relapse and the season of the year, or the season in which the child was born. Children with nephrotic syndrome had a greater incidence of positive skin tests to common antigens, the comparative frequency of positive reactions to different antigens being similar to that found in children with asthma, although the total frequency was about half that of children with asthma. Despite the increased incidence of clinical features of atopy, measures to reduce the frequency of relapse of nephrotic syndrome by allergen avoidance, the use of sodium cromoglycate, and the use of a new oral antiallergic drug were unsuccessful. PMID:6791592

  2. Secondary Syphilis With Hepatitis and Nephrotic Syndrome: A Rare Concurrence

    OpenAIRE

    Makker, Jasbir; Bajantri, Bharat; Nayudu, Suresh Kumar

    2016-01-01

    Syphilis, a chronic multisystem disease, is caused by a spirochete, Treponema pallidum. Clinical presentation may expand to several stages including primary, secondary and latent syphilis, which may present as early or late syphilis. Nephrotic syndrome and acute hepatitis are well-known complications of secondary syphilis. To the best of our knowledge, secondary syphilis with coexisting renal and hepatic complications has rarely been reported. Here we present a rare case of concurrent nephrot...

  3. Nephrotic syndrome in hand, foot and mouth disease caused by coxsackievirus A16: a case report

    OpenAIRE

    Hong-Tao Zhou; Bing Wang; Xiao-Yan Che

    2014-01-01

    Some viruses, including certain members of the enterovirus genus, have been reported to cause nephrotic syndrome. However, no case of coxsackievirus A16 (CVA16)-related nephrotic syndrome has been reported so far. We describe a case of CVA16-related hand, foot and mouth disease presenting with nephrotic syndrome in a 3-year-old boy. This is the first report of CVA16-related nephrotic syndrome.

  4. Histopathological types in adult nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Md. Ghulam Yusuf

    2016-01-01

    Full Text Available In Bangladesh, there are very few studies about biopsy proven adult Nephrotic syndrome (NS with histological types and their clinical findings. To determine the histological types of glomerulonephritis (GN in adult NS and correlate them with the clinical presentations and biochemical parameters, we studied 100 biopsies in 87 patients who underwent ultrasonography- guided renal biopsy in Rangpur Medical College and Hospital from July 2010 to June 2012. The mean age of the patients was 32.8 ± 13.2 years; male was preponderance (72.4% and most of the patients (67.8% came from rural areas. Membranoproliferative GN (MPGN was the most common underlying cause that was found in 32 (36.8% patients followed by mesangial prolife- rative GN in 27 (31% patients, membranous GN in 16 (18.4% cases, minimal change disease in four (4.6% patients, diffuse proliferative GN in four (4.6% patients, focal segmental GN, and focal proliferative GN in two (2.4% patients each. High proteinuria level was found in minimal change disease, which was 7.59 ± 0.24 g/24 h (mean ± standard deviation. The most common symptoms were oliguria (92% and edema (86.2% followed by hematuria (dark urine (72.4% and hypertension (35.6%. MPGN was the most common histological type of adult NS in Rangpur.

  5. Secondary Syphilis With Hepatitis and Nephrotic Syndrome: A Rare Concurrence.

    Science.gov (United States)

    Makker, Jasbir; Bajantri, Bharat; Nayudu, Suresh Kumar

    2016-07-01

    Syphilis, a chronic multisystem disease, is caused by a spirochete, Treponema pallidum. Clinical presentation may expand to several stages including primary, secondary and latent syphilis, which may present as early or late syphilis. Nephrotic syndrome and acute hepatitis are well-known complications of secondary syphilis. To the best of our knowledge, secondary syphilis with coexisting renal and hepatic complications has rarely been reported. Here we present a rare case of concurrent nephrotic syndrome and acute hepatitis in a patient with secondary syphilis. PMID:27298666

  6. A CASE REPORT ON SICKLE CELL DISEASE WITH HEMOLYTIC ANEMIA, NEPHROTIC SYNDROME AND ACUTE CHEST SYNDROME

    OpenAIRE

    Putta; Yamini Devi

    2015-01-01

    Sickle cell disease is an autoimmune hemolytic anemia due to abnormal hemoglobin. Sickling of RBCs occur due to abnormal hemoglobin which leads to vaso - occlusive crisis. This disease manifests as hemolytic anemia, acute chest syndrome, stroke, ischemic leg ulcers and nephrotic syndrome. This patient presented with hemolytic anemia, nephrotic syndrome and acute chest syndrome. This case was diagnosed by electrophoresis of h emoglobin and peripheral smear. Thi...

  7. Nephrotic Sydrome Developing in Severe Ovarian Hyperstimulation Syndrome

    Directory of Open Access Journals (Sweden)

    Funda Gungor Ugurlucan

    2014-01-01

    Full Text Available We report a case that developed nephrotic syndrome during hospitalization for severe ovarian hyperstimulation syndrome without history of acute renal failure. During hospitalization, she developed persistent ascites and respiratory distress. The 24 hours urine protein analysis revealed significant proteinuria and renal biopsy showed global and segmental sclerosis in glomeruli, mesangial arteritis, proliferations in visceral epithelial cells (IgA nephropathy. To the best of our knowledge, such a complication will be presented for the first time in the literature.

  8. Paediatric T cell Lymphoma with Nephrotic Syndrome: A Rare Association

    OpenAIRE

    Joseph, Deepa; Biswajit, Dubashi; Ganesh, Rajesh Nachiappa; Parameswaran, Sreejith; Jain, Ankit

    2012-01-01

    Renal involvement is frequent in hematologic malignancies especially Hodgkin’s lymphoma. Renal complications in children with malignancies primarily arise from tumour lysis syndrome, malignant infiltration or obstruction of the urinary tract, deposits of immunoglobulin fractions or crystals, renal infiltration by malignant cells, paraneoplastic or storage glomerulopathies. Nephrotic syndrome has been described in B cell type Non Hodgkin’s lymphomas. There are very few reports of association o...

  9. OCCURRENCE OF URINARY TRACT INFECTION IN CHILDREN WITH NEPHROTIC SYNDROME IN A TERTIARY CARE HOSPITAL

    Directory of Open Access Journals (Sweden)

    Vishwanath

    2015-12-01

    Full Text Available BACKGROUND Nephrotic Syndrome (NS is among the most common chronic kidney diseases occurring in childhood. Defense mechanisms are impaired in patients with NS. Immuno-compromised status of NS can result in increased susceptibility to various infections, which could be potentially serious and life-threatening without prompt diagnosis and treatment. The occurrence of Urinary Tract Infection (UTI is about 30% in children with nephrotic syndrome; however, it often goes undiagnosed. The present study is a prospective and a descriptive study designed to estimate the occurrence of urinary tract infection in children diagnosed to have NS. METHODS This is a prospective and descriptive study, which was conducted over a period of one year and included patients diagnosed to have NS who attended to the Paediatric Outpatient Department or were admitted at Father Muller Medical College Hospital over a study period of one year. Clean catch midstream urine samples were obtained from all the patients. Urine examination including routine analysis, microscopy, culture and sensitivity was done as per hospital standard policies. RESULTS This study included 30 children, out of which nine (30% were diagnosed with culture positive UTI (6 males and 3 females. The most common organism isolated from the urine culture was Escherichia coli, followed by Proteus, Enterococcus, Pseudomonas and Klebsiella, which was statistically significant (Binomial test p=0.043. Among the 9 cases who had culture positive UTI 3 were newly diagnosed NS and 6 were relapse NS. There was no significant difference between the two groups with regard to sex and age distribution. CONCLUSION This study concludes that urinary tract infections are an important but often under diagnosed infection in children with nephrotic syndrome. All children with nephrotic syndrome newly diagnosed or relapse should be screened for the presence of UTI.

  10. Steroid-sensitive mechanism of soluble immune response suppressor production in steroid-responsive nephrotic syndrome.

    OpenAIRE

    Schnaper, H W; Aune, T M

    1987-01-01

    Soluble immune response suppressor (SIRS), a lymphokine that suppresses antibody production and delayed type hypersensitivity in vivo, has been detected in urine and serum from certain patients with nephrotic syndrome. In the present paper, the relationship between SIRS production and nephrotic syndrome is further characterized. A striking correlation was found between detection of SIRS and the presence of steroid-responsive nephrotic syndrome (SRNS). A potential mechanism of SIRS production ...

  11. Nephrotic syndrome: a rare cause of acute coronary syndrome in a child

    International Nuclear Information System (INIS)

    Patients with nephrotic syndrome are at risk of developing thrombosis in both veins and arteries. Various manifestations in different organs have been reported. Thrombi in heart seen, associated with multi organ thrombosis have been reported on autopsy earlier, but only once in a living patient with nephrotic syndrome. Here, we report a 13 years old boy with steroid-resistant nephrotic syndrome, who developed an asymptomatic but potentially hazardous large intracardiac thrombus. The child developed nephrotic syndrome at the age of 9 years and had multiple recurrences. At the age of 13 years, he developed myocardial infarction (MI) due to embolism from a large intracardiac thrombus. Later on, he was treated with heparin and warfarin anticoagulation. (author)

  12. Defining nephrotic syndrome from an integrative genomics perspective

    OpenAIRE

    Sampson, Matthew G.; Hodgin, Jeffrey B.; Kretzler, Matthias

    2014-01-01

    Nephrotic syndrome (NS) is a clinical condition with a high degree of morbidity and mortality, caused by failure of the glomerular filtration barrier, resulting in massive proteinuria. Our current diagnostic, prognostic and therapeutic decisions in NS are largely based upon clinical or histological patterns such as “focal segmental glomerulosclerosis” or “steroid sensitive”. Yet these descriptive classifications lack the precision to explain the physiologic origins and clinical heterogeneity ...

  13. Disorders of lipid metabolism in nephrotic syndrome: mechanisms and consequences.

    Science.gov (United States)

    Vaziri, Nosratola D

    2016-07-01

    Nephrotic syndrome results in hyperlipidemia and profound alterations in lipid and lipoprotein metabolism. Serum cholesterol, triglycerides, apolipoprotein B (apoB)-containing lipoproteins (very low-density lipoprotein [VLDL], immediate-density lipoprotein [IDL], and low-density lipoprotein [LDL]), lipoprotein(a) (Lp[a]), and the total cholesterol/high-density lipoprotein (HDL) cholesterol ratio are increased in nephrotic syndrome. This is accompanied by significant changes in the composition of various lipoproteins including their cholesterol-to-triglyceride, free cholesterol-to-cholesterol ester, and phospholipid-to-protein ratios. These abnormalities are mediated by changes in the expression and activities of the key proteins involved in the biosynthesis, transport, remodeling, and catabolism of lipids and lipoproteins including apoproteins A, B, C, and E; 3-hydroxy-3-methylglutaryl-coenzyme A reductase; fatty acid synthase; LDL receptor; lecithin cholesteryl ester acyltransferase; acyl coenzyme A cholesterol acyltransferase; HDL docking receptor (scavenger receptor class B, type 1 [SR-B1]); HDL endocytic receptor; lipoprotein lipase; and hepatic lipase, among others. The disorders of lipid and lipoprotein metabolism in nephrotic syndrome contribute to the development and progression of cardiovascular and kidney disease. In addition, by limiting delivery of lipid fuel to the muscles for generation of energy and to the adipose tissues for storage of energy, changes in lipid metabolism contribute to the reduction of body mass and impaired exercise capacity. This article provides an overview of the mechanisms, consequences, and treatment of lipid disorders in nephrotic syndrome. PMID:27165836

  14. Bioimpedance for assessing volume status in children with nephrotic syndrome

    OpenAIRE

    ÖZDEMİR, KADRİYE; MİR, MAKBULE SEVGİ; DİNÇEL, NİDA; BOZABALI, SİBEL; BULUT, İPEK KAPLAN; YILMAZ, Ebru; SÖZERİ, BETÜL

    2015-01-01

    Background/aim: The effectiveness of assessing volume load via bioimpedance in pediatric patients with nephrotic syndrome (NS) was investigated. Materials and methods: Patients with NS (n = 34) were compared with healthy controls (n = 20). The inferior vena cava index and inferior vena cava collapsibility index (IVCCI) scores were determined for all subjects. Bioimpedance measurements were used to directly determine volume load. Clinical findings, relative fluid load, and echocardiographic m...

  15. Behavioral Changes in Egyptian Children With Nephrotic Syndrome

    OpenAIRE

    Emad Emil Ghobrial; Sameh Samir Fahmey; Maha Emad Eldin Ahmed; Osama Botrous

    2013-01-01

    Introduction. Chronic illnesses, including nephrotic syndrome (NS), are associated with psychosocial stress. Our study aimed to assess psychological problems in children with NS. Materials and Methods. Sixty children with NS were assessed at the Children Hospital, in Cairo for behavioral changes. They responded to the Arabic version of the Strength and Difficulties Questionnaire. The results were compared between those with steroid-sensitive NS (SSNS), steroid-dependent NS (SDNS), and steroid...

  16. Prediction of Risk Factors of Frequent Relapse Idiopathic Nephrotic Syndrome.

    Science.gov (United States)

    Jahan, I; Hanif, M; Ali, M A; Hoque, M M

    2015-10-01

    This case control study was aimed to identify the predictive risk factors for frequent relapse idiopathic nephrotic syndrome (INS) and conducted in Sir Salimullah Medical College & Mitford Hospital, Dhaka and at Renal and Dialysis Unit of Dhaka Shishu Hospital and Bangladesh Institute of Child Health (BICH), Dhaka, from January 2006 to December 2006. We examined retrospectively the clinical course of fifty cases of frequent relapse nephrotic syndrome (FRNS) as cases and fifty cases of infrequent relapse nephrotic syndrome (IRNS) as control who met the predefined enrollment criteria, followed for at least one year after initial onset of disease. After enrollment following parameters were studied as predictors of frequent relapse: i) Socio-demographic variables: age, sex, socio-economic condition, number of living room ii) Disease related variables i.e. age of onset, duration of illness, frequency of relapse within the 1st year, regimen of initial steroid therapy, total cumulative dose of steroid for remission, day of remission after starting steroid, association with atopy and infection, concomitant upper respiratory illness iii) Biochemical and pathological variables (at the time of initial attack) i.e. Serum albumin, serum cholesterol, blood urea, 24 hours urinary protein, serum creatinine, complete blood count, urine RBC, urine pus cell, urine culture. The test statistics used to analyses the data were descriptive statistics, Chi-square probability test, Student's t-test and Binary logistic regression analysis for Odds ratio. Both univariate and multivariate logistic regression analysis revealed that age of onset (P<0.001, OR=0.9, 95% CI=0.85-0.95), poor socioeconomic status (P<0.034, OR=0.5.8, 95% CI=1.14-29.5) and low serum albumin level at the time of initial presentation (P<0.022, OR=0.8, 95% CI=0.65-0.97) were independent predictors of frequent relapse nephrotic syndrome. In conclusion, we demonstrated that age at onset, poor socioeconomic condition and low

  17. Serum D-dimer concentrations in nephrotic syndrome track with albuminuria, not estimated glomerular filtration rate.

    LENUS (Irish Health Repository)

    Sexton, D J

    2012-01-01

    The nephrotic syndrome is associated with an increased risk of venous and arterial thrombosis. There are little published data on the distribution, interpretation or determinants of serum D-dimer levels in patients with the nephrotic syndrome. We aimed to describe this relationship.

  18. Meningitis and intracranial bleed in a child with steroid-resistant nephrotic syndrome.

    Science.gov (United States)

    Kapoor, Kanika; Saha, Abhijeet; Thakkar, Dhwanee; Dubey, N K; Vani, Kavita

    2015-11-01

    Meningitis and associated intracranial bleeding have been rarely reported in patients with steroid-resistant nephrotic syndrome. We present such a case with raised intracranial tension in a 13-year-old child and discuss the management issues. Prompt recognition and appropriate treatment of these complications can be life saving in a child with nephrotic syndrome. PMID:26586071

  19. Meningitis and intracranial bleed in a child with steroid-resistant nephrotic syndrome

    OpenAIRE

    Kanika Kapoor; Abhijeet Saha; Dhwanee Thakkar; Dubey, N K; Kavita Vani

    2015-01-01

    Meningitis and associated intracranial bleeding have been rarely reported in patients with steroid-resistant nephrotic syndrome. We present such a case with raised intracranial tension in a 13-year-old child and discuss the management issues. Prompt recognition and appropriate treatment of these complications can be life saving in a child with nephrotic syndrome.

  20. Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China

    Directory of Open Access Journals (Sweden)

    Yonghui Xia

    2013-05-01

    Full Text Available OBJECTIVES: Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS: Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS: All seven of the familial steroid-sensitive idiopathic nephrotic syndrome cases in our sample exhibited minimal change disease, and one case also presented with mesangial proliferative glomerulonephritis, according to the renal pathology. No significant was associations were found between Nphs2 gene mutations and the onset of proteinuria and nephrotic syndrome in these familial cases. CONCLUSIONS: The presence of minimal change disease is important, but it is not an unusual finding in patients with familial steroid-sensitive idiopathic nephrotic syndrome, which appears to be clinically benign and genetically distinct from other types of nephrosis.

  1. Pulmonary embolism as the primary presenting feature of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Pallavi Periwal

    2016-01-01

    Full Text Available A 36-year-old previously healthy male presented with subacute onset of shortness of breath and chest pain. He was diagnosed with bilateral extensive pulmonary embolism (PE. In the absence of any predisposing factors, an extensive workup for unprovoked thrombophilia was done. During the course of his illness, the patient developed anasarca and was diagnosed to be suffering from nephrotic syndrome (NS, secondary to membranous glomerulopathy. Although, thrombotic complications are commonly associated with NS, it is unusual for PE to be the primary presenting feature in these patients.

  2. Chronic graft versus host disease and nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Samia Barbouch

    2014-01-01

    Full Text Available Disturbed kidney function is a common complication after bone marrow transplantation. Recently, attention has been given to immune-mediated glomerular damage related to graft versus host disease (GVHD. We describe a 19-year-old woman who developed membranous glomerulonephritis after bone marrow transplantation (BMT. Six months later, she developed soft palate, skin and liver lesions considered to be chronic GVHD. Fifteen months after undergoing BMT, this patient presented with nephrotic syndrome. A renal biopsy showed mem-branous glomerulonephritis associated with a focal segmental glomerulosclerosis. She was started on corticosteroid treatment with good outcome.

  3. History of Nephrotic Syndrome and Evolution of its Treatment

    Science.gov (United States)

    Pal, Abhijeet; Kaskel, Frederick

    2016-01-01

    The recognition, evaluation, and early treatment of nephrotic syndrome in infants and children originate from physicians dating back to Hippocrates. It took nearly another 1000 years before the condition was described for its massive edema requiring treatment with herbs and other remedies. A rich history of observations and interpretations followed over the course of centuries until the recognition of the combination of clinical findings of foamy urine and swelling of the body, and measurements of urinary protein and blood analyses showed the phenotypic characteristics of the syndrome that were eventually linked to the early anatomic descriptions from first kidney autopsies and then renal biopsy analyses. Coincident with these findings were a series of treatment modalities involving the use of natural compounds to a host of immunosuppressive agents that are applied today. With the advent of molecular and precision medicine, the field is poised to make major advances in our understanding and effective treatment of nephrotic syndrome and prevent its long-term sequelae. PMID:27303658

  4. History of Nephrotic Syndrome and Evolution of its Treatment

    Directory of Open Access Journals (Sweden)

    Abhijeet ePal

    2016-05-01

    Full Text Available The recognition, evaluation, and early treatment of nephrotic syndrome in infants and children originates from physicians dating back to Hippocrates. It took nearly another thousand years before the condition was described for its massive edema requiring treatment with herbs and other remedies. A rich history of observations and interpretations followed over the course of centuries until the recognition of the combination of clinical findings of foamy urine, swelling of the body, and measurements of urinary protein and blood analyses showed the phenotypic characteristics of the syndrome that were eventually linked to the early anatomic descriptions from first kidney autopsies and then renal biopsy analyses. Coincident with these findings were a series of treatment modalities involving the use of natural compounds to a host of immunosuppressive agents that are applied today. With the advent of molecular and precision medicine, the field is poised to make major advances in our understanding and effective treatment of nephrotic syndrome and prevent its long-term sequelae.

  5. History of Nephrotic Syndrome and Evolution of its Treatment.

    Science.gov (United States)

    Pal, Abhijeet; Kaskel, Frederick

    2016-01-01

    The recognition, evaluation, and early treatment of nephrotic syndrome in infants and children originate from physicians dating back to Hippocrates. It took nearly another 1000 years before the condition was described for its massive edema requiring treatment with herbs and other remedies. A rich history of observations and interpretations followed over the course of centuries until the recognition of the combination of clinical findings of foamy urine and swelling of the body, and measurements of urinary protein and blood analyses showed the phenotypic characteristics of the syndrome that were eventually linked to the early anatomic descriptions from first kidney autopsies and then renal biopsy analyses. Coincident with these findings were a series of treatment modalities involving the use of natural compounds to a host of immunosuppressive agents that are applied today. With the advent of molecular and precision medicine, the field is poised to make major advances in our understanding and effective treatment of nephrotic syndrome and prevent its long-term sequelae. PMID:27303658

  6. Neural deficits, intelligence, maladjustment and family response in children with the nephrotic syndrome.

    Science.gov (United States)

    Naidoo, L R; Moodley, T Y; Coovadia, H M; Adhikari, M

    1987-01-10

    An intensive psychomedical study of a small number of children suffering from the nephrotic syndrome is reported. Significant organic and psychological sequelae exist in the nephrotic child. The patient's family also appears to need specialist psychological attention. The urgent need for well-organised liaison psychiatric services in non-psychiatric medical departments is emphasised. PMID:2432669

  7. Anesthetic management of a child with nephrotic syndrome undergoing open heart surgery: Report of a rare case

    Directory of Open Access Journals (Sweden)

    Vishnu Datt

    2012-01-01

    Full Text Available The congenital nephrotic syndrome (NS in infancy and childhood is an important entity but combination with acyanotic congenital heart disease is uncommon. Anesthesia in such cases is challenging because of associated problems like hypo-protienemia, anti-thrombin III deficiency, edema, hyperlipidemia, coagulopathy, cardiomyopathy, immunodeficiency, increased lung water etc. We describe anesthetic management of a patient with childhood NS and sinus venosus atrial septal defect (ASD undergoing open heart surgery. We also suggest guidelines for safe conduct of anesthesia and CPB in such patients.

  8. A histopathological outlook on nephrotic syndrome: A pediatric perspective.

    Science.gov (United States)

    Arif, M K; Arif, M; Amjad, N

    2016-01-01

    The developing world is observing changing histopathological patterns of idiopathic nephrotic syndrome (INS). However, the true burden of non-minimal change disease (non-MCD) presenting as INS remains unestimated owing to a paucity of data on renal biopsies. Data were collected from January 2006 to June 2014 on 75 children up to 16 years of age who underwent renal biopsies for INS. Mean age at biopsy was 11.2 ± 3.7 years. The male to female ratio was 1.5:1. A total of 25 (33.3%) children were steroid sensitive, 36 (48%) were steroid resistant, 10 (13.3%) were steroid dependent and 4 (5.3%) came with relapse of nephrotic syndrome (NS). Focal segmental glomerulosclerosis (FSGS) was the most common histopathological subtype observed in 35 (46.8%) children followed by membranous glomerulonephritis (MGN) in 11 (14.7%), membranoproliferative glomerulonephritis (MPGN) and mesangioproliferative glomerulonephritis (MSGN) in 4 (5.3%) each and IgA nephropathy in one (1.3%). MCD was the histological lesion in 19 (25.3%) children. The histopathology established FSGS as the main underlying cause of steroid resistant NS. The study highlights the emergence of non-MCD as the common cause of INS in the pediatric population and signifies the importance of renal biopsies in children with INS. PMID:27194833

  9. [Hodgkin disease revealed by a nephrotic syndrome: A case report].

    Science.gov (United States)

    Cheptou, M; Pichault, V; Campagni, R; Vodoff, M-V; Fischbach, M; Paillard, C

    2015-12-01

    Pediatric nephrotic syndrome (NS) is most often idiopathic or primary but in rare cases, it can be secondary to neoplasia. We report on a case of steroid-resistant NS revealing as a paraneoplastic syndrome of Hodgkin disease (HD) in a 12-year-old boy. The onset of the NS can be earlier, later, or simultaneous to the HD. Treatment of the lymphoma allows the disappearance of the NS. In the case we observed, the diagnosis of HD was delayed because HD presented with an isolated, hilar adenopathy in the absence of retroperitoneal or peripheral locations. In children aged 10 years or more presenting with NS, steroid-resistant or otherwise, a possible paraneoplastic origin such as Hodgkin lymphoma should always be taken into consideration and eventually eliminated. PMID:26598043

  10. Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?

    Science.gov (United States)

    Becherucci, Francesca; Mazzinghi, Benedetta; Provenzano, Aldesia; Murer, Luisa; Giglio, Sabrina; Romagnani, Paola

    2016-08-01

    Primitive nephrotic syndrome is one of the most common glomerular diseases in childhood and represents the clinical manifestation of various pathologic changes in the kidney. In children, nephrotic syndrome is classified based on the initial response to empiric corticosteroid treatment, which is considered as the best predictor of patients' final outcome. The advent of next-generation sequencing technology showed that genetic alterations in structural genes of the podocyte can be recognized in a significant proportion of not only familial or syndromic patients with steroid-resistant nephrotic syndrome (SRNS), but also of sporadic cases, raising the question of whether it is time to update current protocols of patient care. In this review, we discuss the implications derived from several studies describing a high prevalence in children with SRNS of pathogenic mutations in a group of genes and their unresponsiveness to immunosuppressive therapy. We propose a diagnostic and therapeutic algorithm to reduce the exposure to immunosuppressants in individuals with unresponsive forms of the disease, sparing patients the untoward side effects of prolonged ineffective treatments, and at the same time guaranteeing the optimal immunosuppressive or other new therapy in potentially responsive patients. PMID:27209298

  11. HDL abnormalities in nephrotic syndrome and chronic kidney disease.

    Science.gov (United States)

    Vaziri, Nosratola D

    2016-01-01

    Normal HDL activity confers cardiovascular and overall protection by mediating reverse cholesterol transport and through its potent anti-inflammatory, antioxidant, and antithrombotic functions. Serum lipid profile, as well as various aspects of HDL metabolism, structure, and function can be profoundly altered in patients with nephrotic range proteinuria or chronic kidney disease (CKD). These abnormalities can, in turn, contribute to the progression of cardiovascular complications and various other comorbidities, such as foam cell formation, atherosclerosis, and/or glomerulosclerosis, in affected patients. The presence and severity of proteinuria and renal insufficiency, as well as dietary and drug regimens, pre-existing genetic disorders of lipid metabolism, and renal replacement therapies (including haemodialysis, peritoneal dialysis, and renal transplantation) determine the natural history of lipid disorders in patients with kidney disease. Despite the adverse effects associated with dysregulated reverse cholesterol transport and advances in our understanding of the underlying mechanisms, safe and effective therapeutic interventions are currently lacking. This Review provides an overview of HDL metabolism under normal conditions, and discusses the features, mechanisms, and consequences of HDL abnormalities in patients with nephrotic syndrome or advanced CKD. PMID:26568191

  12. A CASE REPORT ON SICKLE CELL DISEASE WITH HEMOLYTIC ANEMIA, NEPHROTIC SYNDROME AND ACUTE CHEST SYNDROME

    Directory of Open Access Journals (Sweden)

    Putta

    2015-03-01

    Full Text Available Sickle cell disease is an autoimmune hemolytic anemia due to abnormal hemoglobin. Sickling of RBCs occur due to abnormal hemoglobin which leads to vaso - occlusive crisis. This disease manifests as hemolytic anemia, acute chest syndrome, stroke, ischemic leg ulcers and nephrotic syndrome. This patient presented with hemolytic anemia, nephrotic syndrome and acute chest syndrome. This case was diagnosed by electrophoresis of h emoglobin and peripheral smear. This patient recovered with blood transfusion, antibiotics, steroids, diuretics and oxygen inhalation. Sickle cell patients have a known predisposition to bacterial infection, particularly pneumococcal infection. The most si gnificant advance in the therapy of sickle cell anemia has been the introduction of hydroxyurea, but hydroxyurea should be considered in patients experiencing repeated episodes of acute chest syndrome. But in this patient as this is first episode, hydroxyu rea was not given and he recovered well.

  13. Utility of gallium imaging of the kidneys in diagnosing primary amyloid nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gertz, M.A.; Brown, M.L.; Hauser, M.F.; Kyle, R.A. (Mayo Clinic, Rochester, MN (USA))

    1990-03-01

    We undertook a study to determine the value of gallium imaging of the kidneys in patients who had primary amyloidosis that was manifest clinically by nephrotic syndrome. We studied 28 patients with gallium-67 (67Ga) citrate scans performed 48 hr after injection. Intense (3+ to 4+) uptake was noted in both kidneys in 25 of 28 patients. Renal amyloidosis should be considered in the differential diagnosis when diffuse bilateral renal uptake of (67Ga)citrate is seen in the setting of nephrotic syndrome. Gallium uptake did not differentiate amyloid nephrotic syndrome from other causes of nephrotic syndrome. Renal gallium uptake showed a weak correlation with 24-hr urine protein excretion (p = 0.06).

  14. A rare association of Castleman′s disease and nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    I Tazi

    2011-01-01

    Full Text Available Castleman′s Disease (CD is an uncommon and poorly understood disorder of lymph node hyperplasia of unknown etiology. This entity belongs to the atypical lymphoproliferative disorders, a heterogeneous group of diseases characterized by a hyperplastic reactive process involving the immune system. The association of the nephrotic syndrome and CD is extremely rare and their interrelation remains enigmatic. We report a case of CD of the hyaline-vascular type with unicentric localization complicated by nephrotic syndrome.

  15. Assessment of Behavior Abnormalities of Corticosteroids in Children with Nephrotic Syndrome

    OpenAIRE

    Usama Mahmoud Youssef; Mohamed Mohamed Abdelsalam; Ali Mohamed Abozeid; Doaa Mohammed Youssef

    2013-01-01

    Introduction. The objective of this work was to define the frequency and severity of steroid related behavioral side effects in children with steroid sensitive idiopathic nephrotic syndrome (SSNS) during Treatment for relapse. Methods. 30 pediatric patients with steroid sensitive nephrotic syndrome were studied; known as SSNS at complete remission or low dose of Prednisolone and have relapse on follow up. All children in this study were subjected to full history taking, thorough clinical exam...

  16. Invasive Bladder Cancer after Cyclophosphamide Administration for Nephrotic Syndrome : A Case Report

    OpenAIRE

    Nakamoto, Takahisa; Kasaoka, Yoshinobu; Ikegami, Yoshihiko; Usui, Tsuguru

    2000-01-01

    We report a case of invasive bladder cancer after cyclophosphamide administration for nephrotic syndrome, and briefly discuss the association of bladder cancer and cyclophosphamide.  A 6-year-old boy, who was diagnosed as having nephrotic syndrome, was treated with oral administration of prednisolone and cyclophosphamide for 4 years, receiving a total dose of 49.5 g cyclophosphamide. At age 27, a gross hematuria with bloody clots appeared and he presented with postrenal renal failure. He unde...

  17. Candida spp. and gingivitis in children with nephrotic syndrome or type 1 diabetes

    OpenAIRE

    Olczak-Kowalczyk, Dorota; Pyrżak, Beata; Dąbkowska, Maria; Pańczyk-Tomaszewska, Małgorzata; Miszkurka, Grażyna; Rogozińska, Izabela; Swoboda-Kopeć, Ewa; Gozdowski, Dariusz; Kalińska, Angelika; Piróg, Anna; Mizerska-Wasiak, Małgorzata; Roszkowska-Blaim, Maria

    2015-01-01

    Background Diabetes and Nephrotic syndrome (NS) promote plaque-related gingivitis and yeast-like fungal infections. The study assesses the impact of Candida spp. and general disease- or treatment-related factors on plaque-related gingivitis severity in children and adolescents with Nephrotic syndrome /diabetes. Methods Body mass index (BMI), BMI standard deviation score, and oral cavity (Plaque Index – PLI, Gingival Index – GI, mucosa status, presence and Candida enzymatic activity) were asse...

  18. Superior sagittal sinus thrombosis: a rare complication in a child with nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Pirogovsky, A.; Adi, M.; Barzilai, N. [Dept. of Radiology, Kaplan Medical Center, Rehovot (Israel); Dagan, A.; Sinai, L.; Sthoeger, D. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Tabachnik, E. [Div. of Paediatrics, Kaplan Medical Center, Rehovot (Israel); Paediatric ICU, Kaplan Hospital, Rehovot (Israel)

    2001-10-01

    A 2-year-old boy with new-onset nephrotic syndrome developed recurrent vomiting, apathy and papilloedema. Superior sagittal sinus thrombosis was diagnosed on cranial CT and MRI. He gradually recovered after treatment with heparin, fresh frozen plasma and warfarin with complete resolution of the thrombosis after 1 month. Superior sagittal sinus thrombosis is an extremely rare complication of nephrotic syndrome in children. Early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. (orig.)

  19. Profound nephrotic syndrome in a patient with ovarian teratoma

    Directory of Open Access Journals (Sweden)

    Abdallah Jeroudi

    2013-01-01

    Full Text Available The nephrotic syndrome (NS has been associated with a variety of malignancies in a number of reports in the literature, but has been reported in only nine cases associated with ovarian neoplasms. Membranous nephropathy is the most common glomerular pathology causing the NS in patients with solid tumors. There has been only one report of an ovarian neoplasm associated with minimal change disease (MCD. We describe the case of a 36-year-old woman who presented with the NS secondary to biopsy-proven MCD, likely secondary to mature ovarian teratoma. Treatment by tumor removal and prednisone led to remission of the NS. To the best of our knowledge, this is the first report of an ovarian teratoma and the second report of an ovarian neoplasm associated with MCD.

  20. Treatment of steroid resistant nephrotic syndrome in children

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    Kari Jameela

    2010-01-01

    Full Text Available Achieving remission in children with Steroid-Resistant Nephrotic Syndrome (SRNS could be difficult. Many immunosuppressive drugs are used with variable success rates. We have studied the response of children with SRNS who presented to our pediatric′s renal unit between 2002 and 2007 to various modalities of therapy. We included patients with no response to pred-nisolone (60 mg/M 2 /day after four weeks of therapy; all the patients had renal biopsy and follow-up duration for at least one year. We excluded patients with congenital nephrotic syndrome, lupus, or sickle cell disease. There were 31 (23 girls and 8 boys with F: M= 2.9:1; the mean age at presentation was 4.2 ± 3.2 children who fulfilled the inclusion criteria. The mean duration of follow up was 3.1 ± 1.6 years. Twenty children (65% achieved partial (6 children or complete (14 children remission. There were 16 children treated with cyclophosphamide either oral or intra-venous, and only 4 of them (25% achieved remission. Seven children received oral chlorambucil, and only2 of them (28.5% achieved remission; none of the children experienced side effects. Fifteen children received cyclosporine, and only eight of them (53% achieved remission. Six children developed gum hypertrophy and one had renal impairment, which was reversible after discontinuing the drug. Mycophonelate mofetil (MMF was used as the last option in 5 children, and 2 of them achieved complete remission. One child developed a systemic cytomegalovirus (CMV infection which indicated discontinuing the drug. Fourteen (45% children needed more than one immunosuppressive therapy. Three children progressed to end stage renal failure and required dialysis. We conclude that SRNS in children is a difficult disease with significant morbidity. However, remission is achievable with cyclosporine and other immunosuppressive agents. Treatment should be individualized according to the underlying histopathology, and clinical and social

  1. Minimal change nephrotic syndrome in an 82 year old patient following a tetanus-diphteria-poliomyelitis-vaccination

    OpenAIRE

    Clajus Christian; Spiegel Janine; Bröcker Verena; Chatzikyrkou Christos; Kielstein Jan T

    2009-01-01

    Abstract Background The most common cause of idiopathic nephrotic syndrome in children and younger adults is the minimal change nephrotic syndrome (MCNS). In the elderly MCNS is relatively uncommon. Over the last decade some reports suggest a rare but possible association with the administration of various vaccines. Case presentation A 82-year old Caucasian female presented with pronounced nephrotic syndrome (proteinuria of 7.1 g/d, hypoproteinemia of 47 g/l). About six weeks prior to admissi...

  2. Children with Steroid-resistant Nephrotic Syndrome: a Single-Center Study

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    Rahime Renda

    2016-01-01

    Full Text Available Background and Aim: Steroid-resistant nephrotic syndrome (SRNS accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. These patients are at risk of developing end-stage renal disease. The aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with SRNS.Materials and Methods: This retrospective study included 31 patients diagnosed as primary SRNS. Age at first episode, gender, parental consanguinity, and familial history of nephrotic syndrome were recorded. Demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis were analyzed, as were the number of and treatment of relapses, extra-renal manifestations, and complications of disease and treatment.Results: Mean age at first episode of nephrotic syndrome was 4,1±2,9 years. At the end of the first immunosuppressive treatment cycle, 14 (51.8% patients achieved complete remission, 4 (14.8% patients achieved partial remission, and 9 patients (33.3% did not achieve remission. Analysis of the final status of the patients showed that 16 patients (51.6% developed remission, 5 patients (16% continued to have nephrotic range proteinuria and 10 patients (32% developed chronic renal failure (CRF.Conclusion: The treatment of SRNS remains controversial. Early genetic testing can help the inevitable immunosuppressive treatments which may not be effective and have several side effects. Calcineurin inhibitors and mycophenolate mofetil are known to be effective immunosuppressive drugs for treating steroid resistant nephrotic syndrome .

  3. Nephrotic syndrome and Guillan-barre syndrome: A rare association in child

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    Bouyahia Olfa

    2010-01-01

    Full Text Available Only few cases of nephrotic syndrome associated with Guillain-Barre Syndrome (GBS have been reported in the adult and pediatric literature. A 3-year-old boy was initially admitted to our hospital following five days of progressive weakness of his extremities, fatigue, right leg pain and numbness. There was no past history of renal or neurological disease. Cerebro-spinal fluid studies showed a protein level of 92 mg/dL and a white cell count of 1 per high-power field. The diagnosis of GBS was verified with a nerve conduction velocity test as well as. The GBS symptoms improved gradually on intravenous immunoglobulin. Three weeks later, he deve-loped severe proteinuria and edema; laboratory investigation showed nephrotic syndrome which responded to steroid therapy. Renal biopsy showed minimal change glomerulonephritis. He re-mained free of proteinuria during his 20 months of follow-up.

  4. Nephrotic syndrome and Guillan-Barré Syndrome: a rare association in child.

    Science.gov (United States)

    Bouyahia, Olfa; Khelifi, Ibtissem; Gharsallah, Lamia; Harzallah, Kais; Mrad, Sonia Mazigh; Ghargah, Tahar; Boukthir, Samir; Azza, Sammoud El Gharbi

    2010-01-01

    Only few cases of nephrotic syndrome associated with Guillain-Barre Syndrome (GBS) have been reported in the adult and pediatric literature. A 3-year-old boy was initially admitted to our hospital following five days of progressive weakness of his extremities, fatigue, right leg pain and numbness. There was no past history of renal or neurological disease. Cerebro-spinal fluid studies showed a protein level of 92 mg/dL and a white cell count of 1 per high-power field. The diagnosis of GBS was verified with a nerve conduction velocity test as well as. The GBS symptoms improved gradually on intravenous immunoglobulin. Three weeks later, he developed severe proteinuria and edema; laboratory investigation showed nephrotic syndrome which responded to steroid therapy. Renal biopsy showed minimal change glomerulonephritis. He remained free of proteinuria during his 20 months of follow-up. PMID:20061709

  5. Remission of nephrotic syndrome diminishes urinary plasmin content and abolishes activation of ENaC

    DEFF Research Database (Denmark)

    Andersen, René F; Buhl, Kristian Bergholt; Jensen, Boye L.; Svenningsen, Per; Friis, Ulla Glenert; Jespersen, Bente; Rittig, Søren

    2013-01-01

    BACKGROUND: Urinary plasmin activates the epithelial Na(+) channel (ENaC) in vitro and may possibly be a mechanism of sodium retention in nephrotic syndrome (NS). This study used a paired design to test the hypothesis that remission of NS is associated with a decreased content of urinary plasmin......-503] μg/mmol in nephrotic urine versus 9.5 (95 % CI 8-12) μg/mmol at remission (p ...

  6. URINARY TRACT INFECTION IN CHILDREN WITH NEPHROTIC SYNDROME: A PROSPECTIVE OPEN LABELED STUDY

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    Rajendra

    2014-09-01

    Full Text Available : BACKGROUND: Nephrotic syndrome is an important chronic disorder in children in which prevalence of urinary tract infection (UTI is high. UTI may also be responsible for steroid resistance and relapse. UTI is an important but often undiagnosed condition in children with nephrotic syndrome. Hence the present study is being conducted. AIMS AND OBJECTIVES: The study is conducted to determine the clinical features of nephrotic syndrome and to evaluate the incidence, etiological agents, clinical features and the antibiotic sensitivity pattern of Urinary Tract Infections in children with Nephrotic Syndrome. MATERIAL & METHODS: The study was a Prospective hospital based study done by Stratified random sampling conducted on all the paediatric patients with a diagnosis of nephrotic syndrome attending the OPD and admitted to Paediatric hospital. Fifty children with diagnosis of Nephrotic Syndrome were studied. The specimen for urine culture was obtained carefully to prevent contamination by periurethral flora. A clean-catch midstream urine specimen was used. Contamination by periurethral and prepucial organisms was minimized by washing the genitalia. The specimen was directly collected in a sterile container. Prompt plating of the urine specimen, within one hour of collection was ensured. Identification of the organism to species level was done and antibiotic sensitivity pattern was also studied. RESULTS: Among the fifty children studied, boys were affected more than girls by Nephrotic syndrome with a ratio of 1.5:1. The mean age was 4.75 years. Urinary Tract Infection was detected in seventeen children (34%. The present study was statistically significant with p<0.001. The commonest Micro-organism isolated was Escherichia coli, followed by Staphylococcus aureus. Most of the Micro-organisms were sensitive to cephalosporins. CONCLUSION: Urinary Tract Infection is a significant infection detected in cases of Nephrotic Syndrome affecting one third of the

  7. Histopathological patterns in paediatric idiopathic steroid resistant nephrotic syndrome

    International Nuclear Information System (INIS)

    Background: Steroid-resistant nephrotic syndrome (SRNS) is a common problem but difficult to treat for pediatric nephrologists. Due to paucity of studies done in few centres in southern Pakistan regarding the histopathological aspects in paediatric patients with SRNS, this study was conducted to determine the histopathological spectrum in children with SRNS at our centre. Method: This descriptive study has been conducted at the Nephrology department, The Children's Hospital Lahore from February 2014 to January 2015. Based upon history, physical examination and laboratory results, all patients diagnosed as idiopathic SRNS were included in the study and renal biopsy was done to determine the underlying pathology. Histopathology reports were retrieved and data analysis done using SPSS-20.0. Results: There were a total of 96 patients, 64 (66.7 percentage) males and 32 (33.3 percentage) females. The age range was from 0.80 to 15 years with mean age of presentation being 6.34+3.75 years. The most common histo-pathological pattern was mesangio-proliferative Glomerulonephritis found in 79 (82.3 percentage) cases followed by Focal segmental glomerulosclerosis (FSGS) in 9 (9.4 percentage) patients while Minimal change disease (MCD) was seen in 5 (5.2 percentage) subjects. Conclusion: Mesangioproliferative glomerulonephritis is the most common histological pattern seen in children presenting with idiopathic SRNS at our centre followed by FSGS and MCD. (author)

  8. Nephrotic syndrome with a nephritic component associated with toxoplasmosis in an immunocompetent young man.

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    Tania González Velásquez

    2012-09-01

    Full Text Available Normal 0 21 false false false ES-CO X-NONE X-NONE  Introduction: Although the association of infection by toxoplasmosis with the development of nephrotic syndrome is uncommon, cases of this association have nevertheless been reported in the literature for more than two decades, not only for congenital toxoplasmosis, but also in acquired cases, and occasionally in immunocompetent patients. Development: A case is presented of an immunocompetent patient aged 15 with clinical and laboratory indications of nephrotic/nephritic syndrome, in whom serological tests showed toxoplasma infection. Conclusion: The presentation of nephrotic syndrome in ages where it is not commonly seen, leads to clinical suspicion of secondary causes. Active search for possible causes should include common tropical infections. 

  9. Neuromyelitis optica accompanied by nephrotic syndrome and autoimmune-related pancytopenia.

    Science.gov (United States)

    ZhangBao, Jingzi; Zhou, Lei; Lu, Jiahong; Xi, Jianying; Zhao, Chongbo; Quan, Chao

    2016-05-01

    Neuromyelitis optica (NMO) associated with nephrotic syndrome and autoimmune-related pancytopenia has not been reported previously. We report herein a young woman who initially presented with bilateral blurring of vision and numbness in her hands. MRI disclosed multiple white matter lesions and a long cervical spinal cord lesion extending to the medulla oblongata. Serum aquaporin-4 antibody was positive and the patient was diagnosed with NMO. While in the hospital, she presented with hypoproteinemia and heavy proteinuria, meeting the diagnostic criteria of nephrotic syndrome. After high-dose methylprednisolone treatment, her vision improved significantly and urine protein quantity decreased. However, the patient subsequently developed severe pancytopenia with a positive Coombs' test. Thrombocytopenia finally led to uncontrollable gastrointestinal bleeding as the direct cause of the patient's death. This case illustrates the extremely rare condition of concurrence of NMO, nephrotic syndrome, and autoimmune pancytopenia in one patient, which suggests the involvement of organs beyond the central nervous system in NMO spectrum disorders. PMID:27237748

  10. Nephrotic syndrome and Guillan-barre syndrome: A rare association in child

    OpenAIRE

    Bouyahia Olfa; Khelifi Ibtissem; Gharsallah Lamia; Harzallah Kais; Mrad Sonia; Ghargah Tahar; Boukthir Samir; Azza Sammoud

    2010-01-01

    Only few cases of nephrotic syndrome associated with Guillain-Barre Syndrome (GBS) have been reported in the adult and pediatric literature. A 3-year-old boy was initially admitted to our hospital following five days of progressive weakness of his extremities, fatigue, right leg pain and numbness. There was no past history of renal or neurological disease. Cerebro-spinal fluid studies showed a protein level of 92 mg/dL and a white cell count of 1 per high-power field. The diagnosis of GBS was...

  11. Renal amyloidosis in leprosy, an infrequent cause of nephrotic syndrome in Europe.

    Science.gov (United States)

    Sanz-Martín, Noelia; Samillán-Sosa, Kelly Del Rocío; De Miguel, Julio; Martínez-Miguel, Patricia

    2016-01-01

    Leprosy is a chronic infectious disease caused by Mycobacterium leprae The main clinical manifestations involve the skin and the peripheral nervous system. Several types of nephropathy have been described in leprosy. One frequent form of renal involvement is amyloidosis, especially in patients with lepromatous leprosy. In these patients, end-stage renal disease is an important contributor to morbidity and mortality. Here, we present the case of a patient with nephrotic syndrome caused by secondary amyloidosis, chronic peripheral neuropathy and a history of leprosy. The patient was correctly treated in her youth, which is the best way to avoid renal pathology, but she developed a nephrotic syndrome years later. PMID:27489069

  12. Fulminant intracranial hypertension due to cryptococcal meningitis in a child with nephrotic syndrome

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    Leena Nagotkar

    2011-01-01

    Full Text Available Cryptococcus neoformans has a worldwide distribution. Meningoencephalitis is the most common manifestation of cryptococcosis. The outcome of a patient with cryptococcal infection depends on the immune status of the host. Patients with nephrotic syndrome are particularly susceptible to cryptococcal infection not only due to innate changes in their immune system but also because of the immunosuppressive agents used in the treatment. We report an 8-year-old boy with nephrotic syndrome, who developed cryptococcal meningitis and died of fulminant intracranial hypertension.

  13. Vincristine treatment in steroid-dependent nephrotic syndrome.

    Science.gov (United States)

    Kausman, Joshua Yehuda; Yin, Lei; Jones, Colin Lindsay; Johnstone, Lillian; Powell, Harley Robert

    2005-10-01

    Treatment of children with steroid-dependent nephrotic syndrome (SDNS) continues to be a challenge when relapses recur after treatment with cyclophosphamide and side effects or non-compliance make steroids and cyclosporin unsatisfactory. We treated 12 patients with intravenous vincristine for SDNS in a regime of 1-1.5 mg/m2 weekly for 4 weeks then monthly for 4 months. Four of the 5 patients in relapse when commencing vincristine remitted within 2 doses. Comparing relapse frequency in the 12 months before and after vincristine, there was a reduction from 4 to 1.5 (p=0.004) relapses per year. Median sustained remission was 5 months, but 1 frequently relapsing patient remains in remission 4 years after vincristine. Vincristine was also successfully used in 1 or 2 doses at weekly intervals for subsequent relapses in 5 patients. Side effects were minimal in most cases. Abdominal pain occurred in 2 patients who commenced vincristine at 1.5 mg/m2, but resolved when continued at 1 mg/m2. We felt vincristine had a role in a subset of children with challenging SDNS administered as 1 mg/m2 weekly for 4 weeks then 1.5 mg/m2 monthly for 4 months. Vincristine allowed steroid- and cyclosporin-sparing, contributed to long-term remission in some patients, and was especially valuable in children with poor compliance with oral medication. Many patients expressed a preference for a few doses of vincristine rather than a standard course of oral prednisolone or cyclosporin. PMID:15977025

  14. Nephroprotective effect of heparanase in experimental nephrotic syndrome.

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    Suheir Assady

    Full Text Available Heparanase, an endoglycosidase that cleaves heparan sulfate (HS, is involved in various biologic processes. Recently, an association between heparanase and glomerular injury was suggested. The present study examines the involvement of heparanase in the pathogenesis of Adriamycin-induced nephrotic syndrome (ADR-NS in a mouse model.BALB/c wild-type (wt mice and heparanase overexpressing transgenic mice (hpa-TG were tail-vein injected with either Adriamycin (ADR, 10 mg/kg or vehicle. Albuminuria was investigated at days 0, 7, and 14 thereafter. Mice were sacrificed at day 15, and kidneys were harvested for various analyses: structure and ultrastructure alterations, podocyte proteins expression, and heparanase enzymatic activity.ADR-injected wt mice developed severe albuminuria, while ADR-hpa-TG mice showed only a mild elevation in urinary albumin excretion. In parallel, light microscopy of stained cross sections of kidneys from ADR-injected wt mice, but not hpa-TG mice, showed mild to severe glomerular and tubular damage. Western blot and immunofluorescence analyses revealed significant reduction in nephrin and podocin protein expression in ADR-wt mice, but not in ADR-hpa-TG mice. These results were substantiated by electron-microscopy findings showing massive foot process effacement in injected ADR-wt mice, in contrast to largely preserved integrity of podocyte architecture in ADR-hpa-TG mice.Our results suggest that heparanase may play a nephroprotective role in ADR-NS, most likely independently of HS degradation. Moreover, hpa-TG mice comprise an invaluable in vivo platform to investigate the interplay between heparanase and glomerular injury.

  15. Serum osteoprotegerin (OPG in children with primary nephrotic syndrome

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    Gamal B Mohamed

    2011-01-01

    Full Text Available A novel cytokine system secreted by osteoblast, osteoprotegerin (OPG and its ligand (OPGL regulates osteoclastogenesis. To determine the relation of the serum OPG levels in children with nephrotic syndrome (NS to the renal disease, we studied 30 patients with NS in comparison with 30 healthy children serving as controls. The study patients were divided into three equal groups: group 1 included newly diagnosed patients who were studied before and after a short course (one month of steroid therapy for the first time, group 2 included frequent relapsers (FR, and group 3 included infrequent relapsers (IFR. In addition to serum OPG (ELISA, osteocalcin (OC, parathormone (PTH, alkaline phosphatase (ALP, and 24- hour urinary Ca and proteins were measured. The NS patients revealed a significantly lower serum OPG and parameters of bone formation (ALP and OC and a significantly higher 24- hour urinary Ca than controls. A short course of glucocorticoids therapy for one month resulted in a significant decrease of serum OPG, ALP and OC levels and a significant increase of 24- hour urinary Ca, while serum PTH levels were not significantly affected by this the- rapy; the FR revealed a significantly lower serum level and a significantly higher 24- hour urinary Ca and serum PTH than the IFR. OPG had significant negative correlations with markers of disease activity and severity (ESR, serum cholesterol, 24- hour urinary protein and cumulative steroid dose, PTH and 24- hour urinary Ca. On the other hand, OPG had significant positive correlations with ALP, OC, and serum albumin. Low serum OPG, which is attributed to the renal disease and/or steroid therapy, may be an important factor contributing to bone resorption in NS. Studies of the protective effect of OPG administration against bone loss in NS are warranted.

  16. Familial Mediterranean fever, Inflammation and Nephrotic Syndrome: Fibrillary Glomerulopathy and the M680I Missense Mutation

    Directory of Open Access Journals (Sweden)

    Semerdjian Ronald J

    2003-08-01

    Full Text Available Abstract Background Familial Mediterranean fever (FMF is an autosomal recessive disease characterized by inflammatory serositis (fever, peritonitis, synovitis and pleuritis. The gene locus responsible for FMF was identified in 1992 and localized to the short arm of chromosome 16. In 1997, a specific FMF gene locus, MEFV, was discovered to encode for a protein, pyrin that mediates inflammation. To date, more than forty missense mutations are known to exist. The diversity of mutations identified has provided insight into the variability of clinical presentation and disease progression. Case Report We report an individual heterozygous for the M680I gene mutation with a clinical diagnosis of FMF using the Tel-Hashomer criteria. Subsequently, the patient developed nephrotic syndrome with biopsy-confirmed fibrillary glomerulonephritis (FGN. Further diagnostic studies were unremarkable with clinical workup negative for amyloidosis or other secondary causes of nephrotic syndrome. Discussion Individuals with FMF are at greater risk for developing nephrotic syndrome. The most serious etiology is amyloidosis (AA variant with renal involvement, ultimately progressing to end-stage renal disease. Other known renal diseases in the FMF population include IgA nephropathy, IgM nephropathy, Henoch-Schönlein purpura as well as polyarteritis nodosa. Conclusion To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis.

  17. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    Science.gov (United States)

    Gueutin, Victor; Langlois, Anne-Lyse; Shehwaro, Nathalie; Elharraqui, Ryme; Rouvier, Philippe; Izzedine, Hassane

    2013-01-01

    Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported. PMID:24558629

  18. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    OpenAIRE

    Victor Gueutin; Anne-Lyse Langlois; Nathalie Shehwaro; Ryme Elharraqui; Philippe Rouvier; Hassane Izzedine

    2013-01-01

    Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  19. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    Directory of Open Access Journals (Sweden)

    Victor Gueutin

    2013-01-01

    Full Text Available Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  20. Use of Cyclosporine Therapy in Steroid Resistant Nephrotic Syndrome (SRNS): A Review

    Science.gov (United States)

    Shah, Syed Raza; Altaf, Areeba; Arshad, Mohammad Hussham; Mari, Anum; Noorani, Sahir; Saeed, Eraj; Mevawalla, Areesh Amir; Haq, Zaiyn Ul; Faquih, Muhammad Ehsan

    2016-01-01

    A chronic, progressive disorder Steroid Resistant Nephrotic Syndrome (SRNS) accounts for 10-20% of all children with Nephrotic Syndrome. It is a heterogeneous disorder comprised of persistent edema, proteinuria, hypoalbuminemia and hyperlipidemia. Treatment for steroid-resistant nephrotic syndrome (SRNS) is challenging and children who suffer from SRNS require aggressive treatment to achieve remission. Calcineurin inhibitors have been used more in an empirical manner than on the basis of clear rationale. It was in 1984 when cyclosporine was first considered for the treatment of steroid resistant nephrotic syndrome. Cyclosporin is a calcineurin inhibitor that suppresses immune response by downregulating the transcription of various cytokine genes. Till now many studies have been conducted to determine dosages, duration of therapy, side effects and advantages of cyclosporine. Treatment of SRNS remains a difficult challenge in pediatric nephrology. Treatment should be individualized according to the underlying histopathology, and clinical and environmental conditions of the children. There is an urgent need to distinguish as soon as possible those patients who may benefit from prolonged immunosuppressive treatment from those who will not benefit from such treatment and who will just suffer from its major side effects. The emerging evidence that the majority of genetic forms of SRNS should receive symptomatic treatment only, should also be clinically tested and studies baring its significance should be evaluated in the future. PMID:26573045

  1. Vitamin D status is insufficient in the majority of children at diagnosis of nephrotic syndrome

    DEFF Research Database (Denmark)

    Nielsen, Cecilie Ane; Jensen, Jens-Erik Bech; Cortes, Dina

    2015-01-01

    INTRODUCTION: Children with nephrotic syndrome (NS) are treated for at least 12 weeks with high doses of prednisolone, which may be harmful to the bones. Vitamin D deficiency is also harmful to the bones. METHODS: This was a prospective study of consecutive children with first episode of NS at the...

  2. Urinary AQP2 excretion is increased during nephrotic syndrome and is associated with reduced urine production

    DEFF Research Database (Denmark)

    Andersen, René Frydensbjerg; Kamperis, Konstantinos; Frøkjær, Jørgen; Rittig, Søren

    OBJECTIVES: Edema is a hallmark of nephrotic syndrome (NS) and has largely been attributed to sodium retention. Yet low plasma sodium is frequently observed in children with acute NS suggesting that a disturbance in renal water handling may coexist together with sodium retention. The aim of the...

  3. Cortical sinovenous thrombosis in a child with nephrotic syndrome and iron deficiency anaemia.

    Directory of Open Access Journals (Sweden)

    Meena A

    2000-07-01

    Full Text Available Cortical sinovenous thrombosis in a child with nephrotic syndrome and iron deficiency anaemia is described. The most probable mechanism for the hypercoagulable state was thrombocytosis associated with iron deficiency anaemia. The other possible contributing factor might have been the diuretic therapy during the phase of relapse.

  4. MAC-2BP is increased in plasma during nephrotic syndrome and is produced by PBMC

    DEFF Research Database (Denmark)

    Andersen, René Frydensbjerg; Kamperis, Konstantinos; Rittig, Søren

    OBJECTIVES: Edema is a hallmark of nephrotic syndrome (NS) and has largely been attributed to sodium retention. Yet low plasma sodium is frequently observed in children with acute NS suggesting that a disturbance in renal water handling may coexist together with sodium retention. The aim of the...

  5. A Case of Newly Diagnosed Klippel Trenaunay Weber Syndrome Presenting with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Egemen Cebeci

    2015-01-01

    Full Text Available Klippel Trenaunay Weber syndrome (KTWS is a rare disease characterized by hemihypertrophy, variceal enlargement of the veins, and arteriovenous (AV malformations. Renal involvement in KTWS is not known except in rare case reports. Herein, we present a case of KTWS with nephrotic syndrome. A 52-year-old male was admitted due to dyspnea and swelling of the body for the last three months. The pathological physical findings were diffuse edema, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatous lesions on the left leg. The pathological laboratory findings were hypoalbuminemia, hyperlipidemia, increased creatinine level (1.23 mg/dL, and proteinuria (7.6 g/day. Radiographic pathological findings were cystic lesions in the liver, spleen, and kidneys, splenomegaly, AV malformation on the left posterolateral thigh, and hypertrophy of the soft tissues of the proximal left leg. He was diagnosed to have KTWS with these findings. Renal biopsy was performed to determine the cause of nephrotic syndrome. The pathologic examination was consistent with focal segmental sclerosis (FSGS. He was started on oral methylprednisolone at the dosage of 1 mg/kg and began to be followedup in the nephrology outpatient clinic.

  6. Intracranial hypertension presenting with severe visual failure, without concurrent headache, in a child with nephrotic syndrome

    OpenAIRE

    Barnett, Madeleine; Sinha, Manish D.; Morrison, Danny; Lim, Ming

    2013-01-01

    Background Idiopathic intracranial hypertension is a condition typically characterised by headache, normal level of consciousness, papilloedema and raised cerebrospinal fluid pressure. Children often present with visual loss and atypical features of raised pressure, posing a diagnostic and management challenge. A range of renal disorders can predispose to developing this raised intracranial pressure syndrome. We present a case of severe visual failure in a child with nephrotic syndrome, with ...

  7. Study of oxidative stress, homocysteine, copper & zinc in nephrotic syndrome: therapy with antioxidants, minerals and B-complex vitamins

    OpenAIRE

    Jyoti Dwivedi; Purnima Dey Sarkar

    2009-01-01

    Oxidative damage has been proposed as one of the possible mechanism involved in the nephrotic syndrome. Strengthening the defense system by antioxidants may provide protection against oxidative damage. Therefore, this study was carried out to investigate oxidant and antioxidant status with copper, zinc and homocysteine in nephrotic syndrome patients and the effect of antioxidants, minerals and B-complex vitamins on oxidant and antioxidant status. The blood samples were analyzed for quantitati...

  8. Development of a Nephrotic Syndrome in a Patient with Gastrointestinal Stromal Tumor during a Long-Time Treatment with Sunitinib

    OpenAIRE

    PALLOTTI, MARIA CATERINA; Pantaleo, Maria Abbondanza; Nannini, Margherita; Centofanti, Francesca; Fabbrizio, Benedetta; Montanari, Mara; Baraldi, Olga; Saponara, Maristella; Lolli, Cristian; Mandrioli, Anna; Biasco, Guido; Prandini, Rita

    2012-01-01

    A patient with advanced gastrointestinal stromal tumor (GIST) receiving second-line treatment with sunitinib developed edema, increase of the serum creatinine, weight gain, nephrotic syndrome with proteinuria of 12 g/24 h, dyslipidemia, hypoalbuminemia and also presented with hypertension. A kidney biopsy showed an immunocomplex glomerulonephritis. Steroid treatment was started, but the clinical conditions and laboratory values did not improve. So in the hypothesis that the nephrotic syndrome...

  9. Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multi-disciplinary approach

    OpenAIRE

    Gadegbeku, Crystal A.; Gipson, Debbie S.; Holzman, Larry; Ojo, Akinlolu O.; Song, Peter; Barisoni, Laura; Sampson, Matthew G.; Kopp, Jeffrey; Lemley, Kevin V.; Nelson, Peter; Lienczewski, Chrysta; Adler, Sharon; Appel, Gerald; Cattran, Daniel; Choi, Michael

    2013-01-01

    The Nephrotic Syndrome Study Network (NEPTUNE) is a North American multi-center collaborative consortium established to develop a translational research infrastructure for Nephrotic Syndrome. This includes a longitudinal observational cohort study, a pilot and ancillary studies program, a training program, and a patient contact registry. NEPTUNE will enroll 450 adults and children with minimal change disease, focal segmental glomerulosclerosis and membranous nephropathy for detailed clinical,...

  10. Cerebral sinovenous thrombosis in a nephrotic child

    Directory of Open Access Journals (Sweden)

    Rodrigues Marcelo Masruha

    2003-01-01

    Full Text Available Nephrotic syndrome in infancy and childhood is known to be associated with a hypercoagulable state and thromboembolic complications, but cerebral sinovenous thrombosis (CST is a very rare and serious one, with only a few isolated reports in the literature. A case is presented of a 9-year-old boy with nephrotic syndrome that acutely developed signs and symptoms of intracranial hypertension syndrome. CST was diagnosed on cranial CT and MRI and he gradually recovered after treatment with anticoagulants. The diagnosis of CST should be considered in any patient with nephrotic syndrome who develops neurologic symptoms. The discussion of this case, coupled with a review of the literature, emphasizes that early diagnosis is essential for institution of anticoagulation therapy and a successful outcome. This report also illustrates the difficulties that may be encountered in managing such a patient.

  11. Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19

    Energy Technology Data Exchange (ETDEWEB)

    Kestilae, M.; Maennikkoe, M.; Tryggvason, K.; Savolainen, E.R. (Univ. of Oulu (Finland)); Holmberg, C.; Peltonen, L. (Univ. of Helsinki (Finland)); Gyapay, G.; Weissenbach, J.

    1994-05-01

    Congenital nephrotic syndrome of the Finnish (CNF) is an autosomal recessive disease that is characterized by massive proteinuria and nephrotic syndrome at birth. CNF represents a unique, apparently specific dysfunction of the renal basement membranes, and the estimated incidence of CNF in the isolated population of Finland is 1 in 8,000 newborns. The basic defect is unknown, and no specific biochemical defect or chromosomal aberrations have been described. Here the authors report the assignment of the CNF locus to 19[sub q]12-q13.1 on the basis of linkage analysis in 17 Finnish families. Multipoint analyses and observed recombination events place the CNF locus between multiallelic markers D19S416 and D19S224, and the significant linkage disequilibrium observed suggests that the CNF gene lies in the immediate vicinity of the markers D19S224 and D19S220. 16 refs., 4 figs., 4 tabs.

  12. Acute liver failure due to primary amyloidosis in a nephrotic syndrome: a swiftly progressive course.

    Science.gov (United States)

    Cardoso, Brigite Aguiar; Leal, Rita; Sá, Helena; Campos, Mário

    2016-01-01

    AL amyloidosis is a clonal plasma cell proliferative disorder characterised by extracellular tissue deposits of insoluble fibrils derived from κ or λ immunoglobulin light chains. The most common organs affected by AL amyloidosis are the kidney, presenting with nephrotic syndrome and/or progressive renal dysfunction, and the heart, with restrictive cardiomyopathy. Hepatic deposition of fibrils occurs in half the cases but the liver is rarely the predominantly affected organ. The most common presentation of hepatic amyloidosis is hepatomegaly with elevated alkaline phosphatase. Acute liver failure with cholestasis and jaundice is a rare complication, with a prevalence of approximately 5%, and is usually associated with a worse prognosis. We report a case of a 39-year-old man admitted to our nephrology department with an unusual presentation of primary amyloidosis with nephrotic syndrome and acute liver failure, complicated by obstructive cholestasis resulting in death 2 months after diagnosis. PMID:26965175

  13. Rare case of spot diagnosis of nephrotic syndrome in a Saudi male

    Directory of Open Access Journals (Sweden)

    A Askar

    2011-01-01

    Full Text Available A 26- year- old Saudi male school teacher presented with clinical features of nephrotic syndrome. Physical examination revealed loss of subcutaneous fat over the face and upper arms (partial lipodystrophy and drusen in both eyes. The serum level of complement C3 was low, with normal C4. Renal biopsy revealed features consistent with membranoproliferative glomerulo- nephritis (MPGN type II [Dense Deposit Disease (DDD]. He was treated with prednisolone and mycophenolate mofetil with partial remission. He also received lipitor and lisinopril. The occurrence of partial lipo- dystrophy and drusen in a patient with nephrotic syndrome provides a rare clinical opportunity of making a bedside diagnosis of type II MPGN even before kidney biopsy.

  14. Experimental immune complex glomerulonephritis and the nephrotic syndrome in cats immunised with cationised bovine serum albumin.

    Science.gov (United States)

    Nash, A S; Mohammed, N A; Wright, N G

    1990-11-01

    Membranous nephropathy was induced in four cats by repeated intravenous injections of 120 mg cationic bovine serum albumin (BSA, pI 9.5). All four cats developed diffuse granular deposits of IgG and C3 along the glomerular capillary walls as early as five weeks which persisted until the end of the experiment at 17 weeks. Ultrastructural studies revealed many subepithelial electron dense deposits. Two cats developed severe proteinuria and the nephrotic syndrome characterised by hypoalbuminaemia and oedema. An additional four cats received repeated injections of unmodified native BSA (pI 4.5) and remained basically normal. This is the first report of membranous nephropathy and the nephrotic syndrome in an experimental animal model which, unlike other animal models, is subject to the spontaneously occurring disease. PMID:2148430

  15. Genetic basis of congenital nephrotic syndrome and generation of an animal model

    OpenAIRE

    Putaala, Heli

    2001-01-01

    Congenital nephrotic syndrome, NPHS1, is a disease highly enriched in Finland with incidence of 1:82oo births.The disease is characterized by massive proteinuria, go % of which is albumin, starting in utero, large placenta, which weighs over 25 % of the child's birth weight, and manifestation of proteinuria soon after birth. Historically, NPHS1 children have died before the age Of 2, but an aggressive nutritional therapy together with kidney transplantation can today save th...

  16. Colchicine therapy in amyloidosis related with plasmacytic castleman disease presenting with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Saime Paydas

    2015-01-01

    Full Text Available Castleman disease (CD is a neoplasm that presents with single or multiple lymphadenopathy. The disease is characterized by fever, weight loss, anemia, polyclonal hyperglobulinemia, splenomegaly, thrombocytosis and peripheral lymphadenopathy. In this paper, we report a young man with plasmacytic type CD and amyloid A (AA deposition who presented with intra-abdominal mass and nephrotic syndrome. He was successfully treated with colchicine following surgery.

  17. Nephrotic Syndrome Following H1N1 Influenza in a 3-Year-Old Boy

    OpenAIRE

    Pio Liberatore; Francesca del Bufalo; Giorgia Bottaro; Pietro Ferrara; Antonio Gatto; Ottavio Vitelli

    2012-01-01

    Background: The pandemic influenza A/H1N1, spread through the world in 2009, producing a serious epidemic in Italy. Complications are generally limited to patients at the extremes of age (65 years) and those with comorbid medical illness. The most frequent complications of influenza involve the respiratory system.Case Presentation: A 3-year-old boy with a recent history of upper respiratory tract infection developed a nephrotic syndrome. Together with prednisone, furosemide and albumin bolus,...

  18. Lupus podocytopathy: An important differential diagnosis of nephrotic syndrome in systemic lupus erythematosus.

    Science.gov (United States)

    Chaudhury, A R; Rajarajan, T; Yousuf, R; Fernando, E; Kurien, A A

    2016-01-01

    Some patients with systemic lupus erythematosus (SLE) present with sudden onset of nephrotic syndrome and biopsy findings may be of minimal change disease or focal segmental glomerulosclerosis with diffuse foot process effacement on electron microscopy but without significant immune deposits. This entity is termed lupus podocytopathy. Clinicians and renal pathologists need to be aware of this condition. Though steroid sensitive, it needs follow-up to recognize flare and class change, thereby optimizing therapy. PMID:27512302

  19. Management of steroid resistant nephrotic syndrome in children with cyclosporine - a tertiary care centre experience

    International Nuclear Information System (INIS)

    Objective: To observe the response and adverse effects of cyclosporine in combination with oral steroids for management of idiopathic steroid resistant nephrotic syndrome in pediatric patients. Methodology: It was an observational study conducted at Children Hospital, Lahore, Pakistan from March 2014 to June 2015. Forty normotensive patients of idiopathic steroid resistant nephrotic syndrome between one and twelve years of age with normal renal function were included in the study. Patients were prescribed cyclosporine with prednisolone and were followed to see the response and adverse effects of drugs. Results: Out of 40 patients, 20(50%) were males and 20(50%) females. Mesangioproliferative glomerulonephritis was found in 27(67.5%) patients followed by Focal segmental glomerulosclerosis in 9(22.5%) patients. Complete response was observed in 32(80%) children while partial response in 8(20%) patients at the end of six months. The most common adverse effects were cushingoid features seen in 26(65%) and cyclosporine related hypertrichosis in 34(85%). Conclusion: Management of idiopathic steroid resistant nephrotic syndrome in children with a combination of cyclosporine and prednisolone provided good results as response to treatment was seen in 80% patients. (author)

  20. Nephrotic syndrome in dogs: clinical features and evidence-based treatment considerations.

    Science.gov (United States)

    Klosterman, Emily S; Pressler, Barrak M

    2011-08-01

    Nephrotic syndrome (NS), defined as the concurrent presence of hypoalbuminemia, proteinuria, hyperlipidemia, and fluid accumulation in interstitial spaces and/or body cavities, is a rare complication of glomerular disease in dogs, cats, and people. Affected animals frequently have markedly abnormal urine protein:creatinine ratios because of urinary loss of large amounts of protein; however, hypoalbuminemia-associated decreased plasma oncotic pressure is insufficient to explain fluid extravasation in most laboratory models, and, instead, either aberrant renal tubule retention of sodium with resultant increase in hydrostatic pressure or a systemic increase in vascular permeability may be the primary defects responsible for development of NS. Factors associated with NS in people (including "nephrotic-range" serum albumin concentration and urine protein concentration, and particular glomerular disease subtypes) have been assumed previously to also be important in dogs, although descriptions were limited to those patients included in case series of glomerular disease, and sporadic case reports. However, case-control comparison of larger cohorts of dogs with nephrotic versus nonnephrotic glomerular disease more recently suggests that predisposing factors and concurrent clinicopathologic abnormalities differ from those typically encountered in people with nephrotic syndrome, although case progression and negative effect on patient outcome are similar. This article briefly reviews major current theories and supporting evidence on the pathogenesis of NS, followed by an overview on the clinical features of this syndrome in dogs with glomerular disease. The authors also offer evidence-based and experience-based treatment recommendations that are based on minimizing the suspected dysregulation of the renin-angiotensin-aldosterone axis in affected dogs. PMID:21782144

  1. Primary Nephrotic Syndrome in Adults as a Risk Factor for Pulmonary Embolism: An Up-to-Date Review of the Literature

    Directory of Open Access Journals (Sweden)

    Aibek E. Mirrakhimov

    2014-01-01

    Full Text Available Patients with nephrotic syndrome are at an increased risk for thrombotic events; deep venous thrombosis, renal vein thrombosis, and pulmonary embolism are quite common in patients with nephrotic syndrome. It is important to note that nephrotic syndrome secondary to membranous nephropathy may impose a greater thrombotic risk for unclear reasons. Increased platelet activation, enhanced red blood cell aggregation, and an imbalance between procoagulant and anticoagulant factors are thought to underlie the excessive thrombotic risk in patients with nephrotic syndrome. The current scientific literature suggests that patients with low serum albumin levels and membranous nephropathy may benefit from primary prophylactic anticoagulation. A thorough approach which includes accounting for all additional thrombotic risk factors is, therefore, essential. Patient counseling regarding the pros and cons of anticoagulation is of paramount importance. Future prospective randomized studies should address the question regarding the utility of primary thromboprophylaxis in patients with nephrotic syndrome.

  2. Comparison of three methods for isolation of urinary microvesicles to identify biomarkers of nephrotic syndrome.

    Science.gov (United States)

    Rood, Ilse M; Deegens, Jeroen K J; Merchant, Michael L; Tamboer, Wim P M; Wilkey, Daniel W; Wetzels, Jack F M; Klein, Jon B

    2010-10-01

    Urinary microvesicles, such as 40-100 nm exosomes and 100-1000 nm microparticles, contain many proteins that may serve as biomarkers of renal disease. Microvesicles have been isolated by ultracentrifugation or nanomembrane ultrafiltration from normal urine; however, little is known about the efficiency of these methods in isolating microvesicles from patients with nephrotic-range proteinuria. Here we compared three techniques to isolate microvesicles from nephrotic urine: nanomembrane ultrafiltration, ultracentrifugation, and ultracentrifugation followed by size-exclusion chromatography (UC-SEC). Highly abundant urinary proteins were still present in sufficient quantity after ultrafiltration or ultracentrifugation to blunt detection of less abundant microvesicular proteins by MALDI-TOF-TOF mass spectrometry. The microvesicular markers neprilysin, aquaporin-2, and podocalyxin were highly enriched following UC-SEC compared with preparations by ultrafiltration or ultracentrifugation alone. Electron microscopy of the UC-SEC fractions found microvesicles of varying size, compatible with the presence of both exosomes and microparticles. Thus, UC-SEC following ultracentrifugation to further enrich and purify microparticles facilitates the search for prognostic biomarkers that might be used to predict the clinical course of nephrotic syndrome. PMID:20686450

  3. Expression of Interleukin- 13 inPeripheral Blood Mononuclear Cells from Patients with Nephrotic Syndrome

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective Nephrotic syndrome (NS) is a kind of renal diseases characterized mainly by proteinuria and hypoalbuminemia. The disturbance of cellular immunity plays a major role in the pathogenesis of NS. The change of interleukin (IL)-13 produced by Th2 cells was investigated in 50 children with NS. Methods All the patients were selected during their nephrotic stage and remission stage. The expression of IL-13 protein and mRNA was determined by ELISA and reverse transcription-polymerase chain reaction ( RT-PCR ) respectively. Results ①The production of IL-13 inphytoheamagglutinin (PHA)- stimulated monouuclear cells and the expression of IL-13 mRNA were siguificantly increased in patients in nephrotic stage as compared with controls. ②The expression of IL13 protein and mRNA in patients in remission stage was similar to that in the normal controls. ③Th_ere was no correlation between IL-13 and laboratory parameters. Conclusion The results suggest that the disturbance of cellulr immunity plays an important role in the pathogenesis of NS and they also demonstrate a protective role for IL-13 in the children uith NS.

  4. Plasma homocysteine and B vitamins levels in Nigerian children with nephrotic syndrome

    Science.gov (United States)

    Orimadegun, Bose Etaniamhe; Orimadegun, Adebola Emmanuel; Ademola, Adebowale Dele; Agbedana, Emmanuel Oluyemi

    2014-01-01

    Introduction Available data on plasma homocysteine level in patients with nephrotic syndrome (NS) are controversial with increased, decreased and unchanged values reported. Therefore, plasma homocysteine and serum B vitamins in Nigerian children with NS were assessed in this study Methods Fasting blood samples were analysed for plasma homocysteine, serum folate and B vitamins in 42 children with NS and 42 age and sex-matched healthy controls in this case control study. Data were compared between NS and control using t test and Chi square. Relationships were tested with regression analysis with p set at 0.05. Results Prevalence of hyperhomocysteinaemia, low folate and cyanocobalamin in NS was 57.1%, 14.3% and 9.5% respectively. The mean homocysteine level was significantly higher in NS than control (11.3±2.6µmol/L versus 5.5±2.3µmol/L). Also, NS had lower folate and cyanocobalamin than control: 9.1±3.9ng/mL versus 11.2±3.1ng/dL and 268.5±95.7pg/mL versus 316±117.2pg/mL respectively. Weak but significant correlation between homocysteine and serum albumin (r = 0.347), folate (r = -0.607) and vitamin B12 (r = -0.185) were found in the NS group. Significant relationship was also found between homocysteine and vitamin B12 (ß = -0.64, 95% CI = -1.20, -0.08) after controlling for folate and vitamin B6 levels. Conclusion Clinically important hyperhomocysteinaemia and low B vitamins occur in Nigerian children with nephrotic syndrome. This data suggest that potential usefulness of folate and vitamin B supplementation for reducing high homocysteine levels in nephrotic syndrome need to be further investigated PMID:25404967

  5. The therapeutic potential of synthetic human atrial natriuretic peptide in nephrotic syndrome: a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Kanzaki M

    2012-06-01

    Full Text Available Motoko Kanzaki,1 Jun Wada,1 Yoko Kikumoto,1 Shigeru Akagi,1 Kazushi Nakao,3 Hitoshi Sugiyama,2 Hirofumi Makino11Department of Medicine and Clinical Science, 2Department of Chronic Kidney Disease and Peritoneal Dialysis, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan; 3Internal Medicine, Hiroshima City Hospital, Hiroshima, JapanBackground: In nephrotic syndrome, the combination of furosemide and albumin infusion is a standard regimen to treat systemic edema. The efficacy of synthetic human atrial natriuretic peptide (hANP for nephrotic syndrome to ameliorate the systemic edema and retain renal functions has not been fully demonstrated.Trial design: We conducted a prospective, randomized, controlled, open-label clinical trial. Patients were randomly assigned by a stratified biased coin design.Methods: A total of 12 patients with nephrotic syndrome between the ages of 20 to 79 years were enrolled and randomly assigned to either the conventional (CON group treated with furosemide and albumin, and hANP group, in which carperitide was administered in addition to the conventional therapies. The primary end points were: (1 the differences in serum creatinine levels, and (2 the reduction of total dosage of furosemide and albumin by the treatments of hANP. Secondary end points were body weight, systolic blood pressure, heart rate, serum protein, albumin, and urinary protein excretion.Results: A total of 13 patients were enrolled, and one patient was excluded due to severe pneumonia. In both hANP (n = 7 and CON (n = 5 groups, body weight was reduced after 2-week treatments. Serum creatinine levels at follow-up significantly increased compared with baseline. The increase in serum creatinine levels (Δ serum creatinine was smaller in the hANP group compared with the CON group (P = 0.31. The serum uric acid, serum urea nitrogen, and urinary protein excretion were reduced in the hANP group, and increased

  6. Giant Cell Arteritis in a 12-Year-Old Girl Presenting with Nephrotic Syndrome

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    Zeinab A. El-Sayed

    2014-01-01

    Full Text Available Giant cell arteritis (GCA is rare in children. The kidneys are generally spared. We present a case of GCA in a 12-year-old girl with severe headache and tender scalp especially over the right temporal area. The right superficial temporal artery was cord like and nodular and the pulsations were barely felt. Several small tender nodular swellings were felt in the occipital area. She had been previously diagnosed as a case of nephrotic syndrome due to underlying membranoproliferative glomerulonephritis. This report is aimed at drawing attention to this rare form of vasculitis in children aiming at decreasing its morbidities.

  7. Renal vein thrombosis in nephrotic syndrome--a prospective study and review.

    OpenAIRE

    Chugh, K S; Malik, N.; Uberoi, H. S.; Gupta, V K; Aggarwal, M.L.; Singhal, P. C.; Suri, S.; Jain, S.K.

    1981-01-01

    The incidence of renal vein thrombosis (RVT) and other thrombo-embolic phenomena was evaluated in 44 unselected patients with nephrotic syndrome. Renal vein thrombosis was demonstrated by selective renal venography in 10 patients and at post-mortem in one. Extension of the thrombus from the renal veins into the inferior vena cava was seen in 3 patients. Evidence of thrombo-embolism elsewhere in the body was seen in the form of thrombophlebitis in the lower extremities in 4 patients (9.1%), pu...

  8. Long-term Effect of TCM Decoctions in Treatment of Nephrotic Syndrome

    Institute of Scientific and Technical Information of China (English)

    魏连波; 叶任高; 栾图; 吕瑞和; 陈保田

    2002-01-01

    Fifty-seven cases of nephrotic syndrome were treated with TCM decoctions as accessory treatment for prednisone and cyclophosphamide, and the effects were observed in a follow-up period of 5-15 years. The long-term complete remission rate of 68.4% and recurrence rate of 26.3% in the treatment group were respectively higher and lower than those in the control group (P<0.01, and P<0.01). The results suggested that the TCM decoctions were very helpful in treating this condition.

  9. Severe ocular hypertension secondary to systemic corticosteroid treatment in a child with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Brito PN

    2012-10-01

    Full Text Available Pedro Nuno Brito,1 Sérgio Estrela Silva,1 José Silva Cotta,1 Fernando Falcão-Reis1,21Ophthalmology Department, Hospital S João, Porto, Portugal; 2Faculty of Medicine of Porto, University of Porto, Porto, PortugalPurpose: To report a case of severe, acute ocular hypertension in a 6-year-old child, 7 days after initiating treatment with oral prednisolone, due to nephrotic syndrome.Methods: A 6-year-old female Caucasian child was diagnosed with nephrotic syndrome and treated with oral prednisolone (60 mg/day. Seven days later the child initiated complaints of headache, vomiting, ocular pain, and photophobia. Ophthalmologic examination revealed a severely increased intraocular pressure (IOP of 52 mmHg in the right eye and 56 mmHg in the left eye. Anterior segment morphology was evaluated with ultrasound biomicroscopy. Optic disc status was evaluated by disc photography, kinetic perimetry, and optical coherence tomography.Results: Treatment was initiated with latanoprost, brimonidine, and the fixed association of timolol and dorzolamide. At each follow-up examination, progressively better control of IOP was obtained. Simultaneous with corticosteroid dosage decrease we were able to reduce antiglaucomatous medication while maintaining IOP under control. Ultrasound biomicroscopy revealed an open angle with normal anterior segment echographic findings. Perimetric evaluation revealed normal visual fields in both eyes. Four months after presentation, steroid treatment had been completed and IOP was 10 mmHg in both eyes without any antiglaucomatous medication. Optical coherence tomography revealed normal retinal nerve fiber layer thickness in all peripapillary sectors.Conclusions: Systemic steroid treatment can cause a severe, acute increase in IOP in children. Children undergoing steroid treatment should have routine ophthalmologic examinations during treatment duration. Prompt antiglaucomatous treatment prevents retinal nerve fiber layer damage and

  10. Selected thrombosis and atherosclerosis risk factors in children with idiopathic nephrotic syndrome

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    Beata Bieniaś

    2012-04-01

    Full Text Available The purpose of our study was to evaluate selected thrombosis and atherosclerosis risk factors in children with idiopathic nephrotic syndrome (INS at three  stages of the disease (I – in acute phase before steroid therapy, II – during steroid therapy after resolution of proteinuria, III – in remission after completion of steroid therapy.In all children, serum total homocysteine, lipoprotein (a, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides levels were measured at three stages of the disease. Plasma antithrombin III, fibrinogen and D-dimer levels were also determined.  At all stages of INS, the serum t-HCY levels were similar and significantly higher than in controls.  Serum lipoprotein (a level, plasma antithrombin III, fibrinogen and D-dimer levels were significantly higher at stage I than at stages II, III and controls.In conclusion, children with INS are at high risk of thrombosis and atherosclerosis. Keywords: Idiopathic nephrotic syndrome, Homocysteine, Lipoprotein (a, Antithrombin III, fibrinogen, D-dimer

  11. The correlation between attention deficit hyperactivity disorder and steroid-dependent nephrotic syndrome

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    Parsa Yousefichaijan

    2015-01-01

    Full Text Available Nephrotic syndrome (NS is characterized by nephritic-range proteinuria and the triad of clinical findings associated with large urinary losses of protein, hypoalbuminemia, edema and hyperlipidemia. More than 80% of children below 13 years of age with primary NS have steroid-responsive forms. There is no identifiable cause of attention-deficit hyperactivity disorder (ADHD. It is likely that the symptoms of ADHD represent a final common pathway of diverse causes, including genetic, organic and environmental etiologies. This case-control study was performed on 130 children aged between 5 and 13 years who were followed-up for two years. Sixty-five children with steroid-dependent nephrotic syndrome (SDNS as the case group and 65 healthy children as the control group were included in the study. Patients with minimal change NS were treated with prednisolone for at least six months. Conner′s Parent Rating Scale - 48 (CPRS-48 was completed by the parents and the children were identified with any form of ADHD. Then, children were referred to an expert psychiatrist. The collected data were analyzed with SPSS software. The result showed that there was no significant relationship between different types of ADHD in both groups. Thus, based on current study, one may conclude that there are no significant differences between prevalence of ADHD in children with SDNS and the control group.

  12. Minimal change nephrotic syndrome in an 82 year old patient following a tetanus-diphteria-poliomyelitis-vaccination

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    Clajus Christian

    2009-08-01

    Full Text Available Abstract Background The most common cause of idiopathic nephrotic syndrome in children and younger adults is the minimal change nephrotic syndrome (MCNS. In the elderly MCNS is relatively uncommon. Over the last decade some reports suggest a rare but possible association with the administration of various vaccines. Case presentation A 82-year old Caucasian female presented with pronounced nephrotic syndrome (proteinuria of 7.1 g/d, hypoproteinemia of 47 g/l. About six weeks prior to admission, she had received a combination vaccination for tetanus, diphtheria and poliomyelitis as a booster-vaccination from her general practitioner. The renal biopsy revealed typical minimal change lesions. She responded well to the initiated steroid treatment. As through physical examination as well as extensive laboratory and imaging studies did neither find any evidence for malignancies nor infections we suggest that the minimal change nephrotic syndrome in this patient might be related to the activation of the immune system triggered by the vaccination. Conclusion Our case as well as previous anecdotal reports suggests that vaccination and the resulting stimulations of the immune system might cause MCNS and other severe immune-reactions. Increased awareness in that regard might help to expand the database of those cases.

  13. Clinical Observation of Tiaojining (调激宁) Granule Combined with Corticosterone in Treating Infantile Primary Nephrotic Syndrome

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    In order to observe the effect of Tiaojining granule (调激宁, TJNG) combined with corticosteroids (CS) to enhance the efficacy and alleviate the side-effects, the authors used the combination therapy of TJNG and CS in treating infantile primary nephrotic syndrome (IPNS) in 1990-1996, and the following is the summary of clinical data.

  14. Aberrant glomerular filtration of urokinase-plasminogen activator in nephrotic syndrome leads to amiloride-sensitive plasminogen activation in urine

    DEFF Research Database (Denmark)

    Stæhr, Mette; Buhl, Kristian Bergholt; Andersen, René F;

    2015-01-01

    In nephrotic syndrome, aberrant glomerular filtration of plasminogen and conversion to active plasmin in pre-urine is thought to activate proteolytically ENaC and contribute to sodium retention and edema. The ENaC blocker amiloride is an off-target inhibitor of urokinase-type plasminogen activator...

  15. D-Pencillamine induced nephrotic syndrome in 11-year old girl with wilson disease: A case report

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    Dr. Anil Kumar*

    2013-12-01

    Full Text Available D-pencillamine and zinc remains the first line of treatment for Wilson’s disease in India. Membranous glomerulopathy is most commonly associated with nephrotic syndrome secondary to d penicillamine but isolated cases of minimal change lesions are rarely reported.We report a pediatric patient with Wilson’s disease who developed nephrotic syndrome 9 months after starting D-pencillamine. After stopping D-pencillamine and with only zinc for maintanence, her proteinuria resolved within a week’s time with full dose of steroids for nephrotic syndrome.Wilson disease itself may have tubular dysfunction but glomerulopathy is rare Isolated minimal change disease can occur in a 11 – year old patient yet it is statistically more likely to occur in a much younger age group.The most likely cause of nephrotic syndrome in this child is due to the late complication of D-penicillamine. It also re – emphasizes the importance of early monitoring for proteinuria and the need to shift to an alternative agent if side effects develop

  16. The study of lipid profile, LP (a and electrolytes with oxidative stress, total protein and albumin in nephrotic syndrome

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    Jyoti Dwivedi

    2014-02-01

    Full Text Available Nephrotic syndrome is characterized by heavy proteinuria, hypoalbuminemia, hyperlipidemia associated with peripheral edema. Recent observation revealed that serum albumin plays an important role in the host defense mechanism as it is one of the important antioxidants. Oxidative damage by free radicals has been implicated in kidney injury, especially in nephrotic syndrome (NS. Therefore, this study was carried out to investigate oxidant and lipoprotein (a status with protein and electrolytes in nephrotic syndrome patients. The blood samples were analyzed for quantitation of malondialdehyde as index of lipid peroxide, total antioxidant capacity, lipid profile, lipoprotein (a, electrolytes, total protein and albumin. Significantly increased levels of serum lipid peroxide, lipoprotein (a LDL, VLDL, Tcholand decreased levels of serum total antioxidant capacity and total protein and albumin were noticed in the patients with nephrotic syndrome as compared to control subjects. Electrolytes are variable Na was increased and potassium was decreased. However, significant positive correlation in lipid peroxide with lipoprotein (a,and total protein and albumin with total antioxidant capacity were observed. [Int J Res Med Sci 2014; 2(1.000: 62-66

  17. The treatment of relapsing primary nephrotic syndrome in children

    Institute of Scientific and Technical Information of China (English)

    WANG Ya-ping; LIU Ai-min; DAI Yu-wen; YANG Cheng; TANG Hong-feng

    2005-01-01

    Objective: To explore better therapy and reduce the rate of re-relapse of primary nephritic syndrome in children who had been treated with corticosteroids but relapsed. Methods: Eighty relapsers were enrolled from Jan. 1994 to Apr. 2000, who were randomly divided into two groups. The treatment group (n=39) had been treated with tripterysium glucosides for three months,with the control group (n=41) members were treated with cyclophosphmide (CTX) by intermission intravenous pulse, with total dose of CTX not being more than 150 mg/kg. Prednisone, meanwhile, was given to both groups. The total treatment period of prednisone was prolonged by 12-18 months. Results: After following up for 3-7 years, the re-relapse rates of both groups were observed. The re-relapse rate of the treatment group was 28.2% to 29.3% in the CTX-controlled group. The re-relapse rates between two groups were almost similar, and with no observed significant difference (P>0.05). The side effect of tripterysium glucosides was less than that of CTX. Conclusion: For the treatment of relapsing nephritic syndrome in children, the combination of tripterysium glucosides and prolonged corticosteroid therapy is as effective as the regimen of CTX plus prolonged use of prednisone.

  18. Hydroxyurea for Treatment of Nephrotic Syndrome Associated With Polycythemia Vera.

    Science.gov (United States)

    Hundemer, Gregory L; Rosales, Ivy A; Chen, Yi-Bin; Colvin, Robert B; Tolkoff-Rubin, Nina E

    2016-09-01

    Myeloproliferative disorders are a rare cause of focal segmental glomerulosclerosis (FSGS), although the mechanism is unclear. Hydroxyurea is commonly used in these disorders for its cytoreductive properties; however, the effect of this treatment on proteinuria or kidney function remains unclear in cases of myeloproliferative disorder-associated FSGS. We describe the clinical course of a patient with polycythemia vera and nephrotic-range proteinuria, demonstrated to have FSGS on biopsy. The patient had a distant history of granulomatosis with polyangiitis (Wegener's), for which he routinely had his kidney function and proteinuria measured, allowing for early detection of nephrotic syndrome soon after being diagnosed with polycythemia vera. Treatment with hydroxyurea resulted in rapid improvement in proteinuria that correlated with a decrease in hematocrit. This response was replicated 2 additional times when the patient was taken off and then restarted on hydroxyurea therapy. He now maintains a steady dose of hydroxyurea with favorable kidney measures (proteinuria with <1g/d of protein excretion and serum creatinine of 1.27mg/dL [corresponding to estimated glomerular filtration rate of 56mL/min/1.73 m(2)]). This case suggests that early screening and treatment for myeloproliferative disorder-associated FSGS may lead to improved long-standing kidney function. PMID:27133437

  19. Unusual pediatric co-morbility: autoimmune thyroiditis and cortico-resistant nephrotic syndrome in a 6-month-old Italian patient

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    Urbano Flavia

    2012-10-01

    Full Text Available Abstract We report on a case of autoimmune thyroiditis in a 6-month-old patient with cortico-resistant nephrotic syndrome. Normal serum levels of thyroid hormons and thyroid-stimulating hormone were detected with high titers of circulant antithyroid antibodies and a dysomogeneous ultrasound appearance of the gland, typical of autoimmune thyroiditis. The research of maternal thyroid antibodies was negative. This is the first case of autoimmune thyroiditis found in such a young patient with pre-existing nephrotic syndrome ever described in literature. This association is random because nephrotic syndrome does not have an autoimmune pathogenesis and the genes involved in autoimmune thyroiditis are not related to those of nephrotic syndrome.

  20. Nephrotic Syndrome Following H1N1 Influenza in a 3-Year-Old Boy

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    Pio Liberatore

    2012-06-01

    Full Text Available Background: The pandemic influenza A/H1N1, spread through the world in 2009, producing a serious epidemic in Italy. Complications are generally limited to patients at the extremes of age (65years and those with comorbid medical illness. The most frequent complications of influenza involve the respiratory system.Case Presentation: A 3-year-old boy with a recent history of upper respiratory tract infection developed a nephrotic syndrome. Together with prednisone, furosemide and albumin bolus, a therapy with oseltamivir was started since the nasopharyngeal swab resulted positive for influenza A/H1N1. Clinical conditions andlaboratory findings progressively improved during hospitalization, becoming normal during a 2 month follow up.Conclusion: The possibility of a renal involvement after influenza A/H1N1 infection should be considered.

  1. Albumin and Furosemide Combination for Management of Edema in Nephrotic Syndrome: A Review of Clinical Studies

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    Margaret Duffy

    2015-10-01

    Full Text Available The treatment of edema in patients with nephrotic syndrome is generally managed by dietary sodium restriction and loop diuretics. However, edema does not improve in some patients despite adequate sodium restriction and maximal dose of diuretics. In such patients, combination of albumin and a loop diuretic may improve edema by diuresis and natriuresis. The response to this combination of albumin and a diuretic has not been observed in all studies. The purpose of this review is to discuss the physiology of diuresis and natriuresis of this combination therapy, and provide a brief summary of various studies that have used albumin and a loop diuretic to improve diuretic-resistant edema. Also, the review suggests various reasons for not observing similar results by various investigators.

  2. Membranous glomerulonephropathy and nephrotic syndrome associated with iatrogenic metallic mercury poisoning in a cat.

    Science.gov (United States)

    Shull, R M; Stowe, C M; Osborne, C A; O'Leary, T P; Vernier, R L; Hammer, R F

    1981-02-01

    The nephrotic syndrome, characterized by nonselective proteinuria, hypoproteinemia, hypoalbuminemia, and ascites, was observed in a 10-month-old male cat. Profound glomerular changes and renal tubular changes appear to have been induced by iatrogenic chronic exposure to metallic mercury originally contained in a rectal thermometer. Large concentrations of mercury were present in the kidneys, liver, spleen, and urine. Evaluation of glomeruli by immunofluorescent microscopy revealed interrupted granular deposition of immuno-globulin G and the third component of complement in glomerular capillary walls and the mesangium. Electron microscopic evaluation of glomeruli revealed diffuse alterations in glomerular basement membranes and visceral epithelial cells. Small electron dense deposits were observed in capillary walls, but they were not characteristic of immune complexes. The mechanism(s) responsible for the mercury induced glomerulonephropathy in this patient could not be determined on the basis of available data. PMID:7257162

  3. Clinical Study of Gushen Tablet(固肾片) in Reducing Children's Nephrotic Syndrome Relapse

    Institute of Scientific and Technical Information of China (English)

    云鹰; 高雅; 马玉宏; 刘望乐; 赵蒙; 高智铭

    2003-01-01

    Objective: To explore the effect of Gushen tablet (固肾片, GST) in reducing the relapse of children′s nephrotic syndrome and the possible mechanism of drugs used. Methods: Fifty children with primary nephrotic syndrome who had been induced and alleviated with regular glucocorticoid (GC) were randomly divided into two groups: the GST group used GST and standard middle-long term course of GC,and the control group adopted standard middle-long term course of GC and immunoinhibitory or immunomodulatory agents for treatment. The 0.5, 1 and 2 years after the treatment the relapse episodes, time for urinary protein negative conversion after relapse, the episodes of patienfs infection and relapse after infection were evaluated. Before and after treatment the plasma cortisol and T lymphocyte subpopulation were determined. Results: The relapse rate of GST group: the rates after 0.5, 1, 2 years were 20.0 %, 30.0 %and 40.9%, and the frequent relapse rate were 0, 6.7% and 9.2% respectively, which were lower than those of control group (60.0%, 70. 0%, 69.2% and 25.0%, 15.0%, 15.4% respectively) ; in the GST group no relapse occurred within 0. 5 year, the relapse rate after 1 and 2 years reduced by 40. 0% and 28.3%, compared with those of the control group (all P<0.05) ; during the observation period, the mean infection/every child patient was 1.86 episodes in GST group, after infection the nephrotic relapse rate was 28. 3%, which was lower than that of the control group (2.25 episodes, 71. 1%, P<0. 05); the relapse per patient in GST group was 0.8 episodes, time for urinary protein negative conversion was 12.00±8.98 days, lower than those of control group (1.6 episodes, 20.75±11.95 days, P<0.05) ; 3 months after GST treatment the plasma cortisol level normalized, and the CD4/CD8 ratio elevated (P<0. 05). Conclusion: GST could possibly reduce the relapse of children nephrosis, and the frequent relapse and relapse episodes, and the time for post-relaptic urinary

  4. TRPC6 gene promoter polymorphisms in steroid resistant nephrotic syndrome children

    Directory of Open Access Journals (Sweden)

    Mahesh Kumar Kempanahalli Basappa

    2015-04-01

    Full Text Available Introduction: Nephrotic syndrome (NS is the most frequent cause of proteinuria in children and is emerging as a leading cause of uremia. Among idiopathic NS, 10% of children do not respond to steroids or to any other immunosuppressive therapy, and progress to end-stage renal disease (ESRD. Several studies have investigated the mutations in genes encoding podocyte proteins and their possible associations with several forms of hereditary NS. Objectives: The present study aimed to determine the distribution of the TRPC6 gene promoter polymorphisms in subjects with features of steroid resistant nephrotic syndrome (SRNS and controls. Patients and Methods: About 49 unrelated patients with SRNS and 45 age matched controls no renal or other disorders were included in the study. PCR-RFLP was used for genotyping rs3824934 (-254C>G and rs56134796 (-218C>T polymorphisms located in TRPC6 gene promoter region. Results: Both -254C>G and -218C>T are polymorphic in both SRNS patients and controls. No statistically significant differences in genotypes or allele frequencies between SRNS patients and controls were observed. Linkage disequilibrium was not strong and significant and haplotypes were not associated with SRNS. Interaction analysis by multifactor dimensionality reduction (MDR revealed a significant interaction between -254G>C and -218C>T in <10 years age group. Conclusion: The results demonstrate that the TRPC6 polymorphisms do not affect susceptibility of SRNS in Indian population. Further replications, preferably a systematic search for TRPC6 functional variants that affect gene expression are desirable for validation of our findings.

  5. An Estimation of Steroid Responsiveness of Idiopathic Nephrotic Syndrome in Iranian Children

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    Niloofar Hajizadeh

    2010-06-01

    Full Text Available Objective:Idiopathic Nephrotic syndrome (INS is the most common form of nephrotic syndrome (NS in children with the potential of progression to end stage renal disease (ESRD. INS is steroid-responsive in most children, but not all patients respond to it. The aim of this study was to determine the rate of steroid responsiveness in children with INS that referred to Childrens Medical Center since 1995 to 2007. Methods:In as a cross sectional study, the medical records of all children with INS aged 1 to 15 years who were referred to our referral hospital was reviewed. All patients with onset of disease less than 1 year of age, spontaneous remission, secondary forms of NS associated with systemic diseases, and follow up duration of less than 12 months were excluded from the study. Patients were categorized into 6 groups: Group 1 needed biopsy prior to any treatment, group 2 non-relapsing NS, group 3 infrequently relapsing NS, Group 4 frequently relapsing NS, group 5& steroid dependent NS and group 6 steroid resistant NS. Findings:A total of 238 patients were enrolled in the study. Kidney biopsy was performed in 79 cases. Minimal change lesion (MCL was the most common (36.7% pathological diagnosis. Steroid responsiveness was found in 81.5% of all cases including: 96% of MCL (consisting of biopsy proven cases and presumed ones, 32% of focal and segmental glomerulosclerosis, 73% of diffuse mesangial proliferation and 58% of membranoproliferative glomerulonephritis& patients. During minimal follow up period of 12 months, there were 194 patients in remission, 32 patients with active NS, and 12 patients in ESRD. Conclusion:Our study results showed that 81.5% of all patients, 96.2% of MCL and 32% of FSGS patients initially responded to steroid therapy.

  6. Mapping of the locus for congenital nephrotic syndrome of the Finnish type (CNF) on chromosome 19

    Energy Technology Data Exchange (ETDEWEB)

    Kestilae, M.; Maennikkoe, M.; Tryggvason, K. [Univ. of Oulu (Finland)] [and others

    1994-09-01

    Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease which forms a distinct entity among congenital nephrotic syndromes. It is characterized by massive proteinuria starting already in utero, large placenta and manifestation of nephrosis soon after birth. The incidence in Finland is about 1 in 8000 newborns, and the disease has been reported occasionally in other countries, particularly in Minnesota, USA. The gene defect in CNF is unknown, but the gene product is likely to be important for kidney development of glomerular filtration. We have used a random mapping approach in 17 Finnish CNF families resulting in the localization of the gene to chromosome 19q12-q13.1. Based on observed recombination events, the CNF locus is flanked by markers D19S191 and D19S224 corresponding to a region under 1 Mb in physical length. Cosmid contigs have been isolated from this region and at least two new polymorphic CA-repeat markers (MKMM1, MKMM2) have been identified from those clones. Statistically highly significant linkage disequilibrium can be observed with markers MKMM1, D19S224 and D19S220, the allelic association being about 65%. The most common haplotype, which was combined from these markers, is found in 60% of chromosomes carrying the CNF mutation. This work has enabled DNA-based diagnosis of CNF, and recently linkage and linkage disequilibrium analyses were used in prenatal diagnostics in a family with one affected child and two healthy siblings. DNA isolated from chorion villus biopsy was analyzed using markers D19S191, MKMM1, D19S224 and D19S220, and the fetus was shown to have the same genotype as the affected child.

  7. Nephrotic syndrome

    Science.gov (United States)

    ... the following: Antinuclear antibody Cryoglobulins Complement levels Glucose tolerance test Hepatitis B and C antibodies HIV test ... PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Kidney Diseases Browse the ...

  8. Study of oxidative stress, homocysteine, copper & zinc in nephrotic syndrome: therapy with antioxidants, minerals and B-complex vitamins

    Directory of Open Access Journals (Sweden)

    Jyoti Dwivedi*

    2009-09-01

    Full Text Available Oxidative damage has been proposed as one of the possiblemechanism involved in the nephrotic syndrome. Strengthening thedefense system by antioxidants may provide protection againstoxidative damage. Therefore, this study was carried out toinvestigate oxidant and antioxidant status with copper, zinc andhomocysteine in nephrotic syndrome patients and the effect ofantioxidants, minerals and B-complex vitamins on oxidant andantioxidant status. The blood samples were analyzed for quantitationof malondialdehyde as index of lipid peroxide, vitamin C, totalantioxidant capacity, copper, zinc, and homocysteine. Significantlyincreased levels of serum lipid peroxide, homocysteine anddecreased levels of serum total antioxidant capacity, copper, zincand plasma vitamin C were noticed in the patients with nephroticsyndrome as compared to control subjects. However, significantreduction in lipid peroxide, homocysteine and improvement invitamin C, total antioxidant capacity, copper, and zinc activity wereobserved after treatment of antioxidants and minerals with Bcomplexvitamins.

  9. Sustained Remission of Antineutrophil Cytoplasmic Antibody-Mediated Glomerulonephritis and Nephrotic Syndrome in Mixed Connective Tissue Disease

    OpenAIRE

    Konstantinov, Konstantin N.; Harris, Alexis A.; Barry, Marc; Murata, Glen H; Tzamaloukas, Antonios H.

    2013-01-01

    A woman diagnosed with mixed connective tissue disease (MCTD) developed an anti-myeloperoxidase (MPO) antineutrophil cytoplasmic antibody (ANCA) and nephrotic syndrome with normal serum creatinine. Percutaneous kidney biopsy showed pauci-immune glomerulonephritis with superimposed immune complex deposition. After treatment with cyclophophamide and prednisone, proteinuria decreased progressively to a level of 0.4 g/g creatinine, ANCA became undetectable, while serum creatinine remained normal ...

  10. Clinical Analysis of Pediatric Clinical Nephrotic Syndrome%小儿肾病综合征的临床分析

    Institute of Scientific and Technical Information of China (English)

    张丽丽

    2015-01-01

    ObjectiveTo investigate the clinical treatment of children with nephrotic syndrome.Methods 40 cases of children with nephrotic syndrome clinical treatment data were analyzed.Results 40 cases of children with nephrotic syndrome in patients with clinical remission in 24 cases, 14 cases improved, no change in two cases.Conclusion The disease mainly adopt a glucocorticoid , recurrent or steroid -resistant with the application of immunosuppressive drugs , the cure rate is high, small adverse reactions.%目的:探讨小儿肾病综合征患者临床治疗。方法对40例小儿肾病综合征患者临床治疗方法资料进行分析。结果40例小儿肾病综合征患者经治疗临床缓解24例,好转14例,无变化2例。结论本病采用以糖皮质激素为主,反复发作或对激素耐药者配合应用免疫抑制药,治愈率高,不良反应小。

  11. Effects of steroids therapy and ACTH therapy on the central nervous system evaluated by CT. Nephrotic syndrome and infantile spasms

    Energy Technology Data Exchange (ETDEWEB)

    Xano, E.; Yamashita, F.; Aoki, N.i; Matsuishi, T. (Kurume Univ., Fukuoka (Japan). School of Medicine); Yamamoto, M.

    1981-05-01

    CT scanning revealed cerebral atrophy of various degrees in 12 of 15 cases of nephrotic syndrome in which ACTH therapy was given and also in all the 8 cases of infantile spasms in which ACTH therapy was given. CT findings of cerebral atrophy were analysed by computor and expressed in terms of cerebrospinal fluid (CSF)-space/intracranial space ratio (%). The ratio was 6.6 +- 3.9% in nephrotic syndrome, 16.4 +- 7.8% in infantile spasms, and 1.6 +- 0.8% in control, showing statistically significant differences among them. Abnormal CT findings of 12 cases of nephrotic syndrome returned to normal after withdrawal of steroids in 9 cases (75%). CT findings in 8 cases of infantile spasms also improved in all the cases after withdrawal of ACTH therapy. The results suggested that cerebral atrophy on CT scan is a reversible change. However, the effect of steroids and ACTH on the central nervous system is not sufficiently known yet. We should be very careful about long-term administration of great amount of steroids or ACTH to infants and children.

  12. [Frey syndrome in childhood].

    Science.gov (United States)

    Clarós, P; González-Enseñat, M A; Arimany, J; Vincente, M A; Clarós, A

    1993-01-01

    Frey's syndrome is distinguished by the appearing of erythema, sensation of hotness, sometimes pain, and transpiration discharge in the preauricular and temporal area when ingestion stars. We present an eleven month old child with this pathology and we review the etiology and clinic manifestations of this syndrome. PMID:8129975

  13. Sweet Syndrome in childhood.

    Science.gov (United States)

    Santos, Talita Batalha Pires dos; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; Cerqueira, Ana Maria Mosca de

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  14. Chronic Fatigue Syndrome (CFS): Childhood Adversity

    Science.gov (United States)

    ... childhood maltreatment. In particular, for women, emotional and sexual abuse during childhood was associated with a greater risk ... risk for chronic fatigue syndrome: results from a population-based study. Arch Gen Psychiatry. 2006 Nov;63( ...

  15. [Longitudinal study in children with the nephrotic syndrome and minimal glomerular lesion].

    Science.gov (United States)

    Martini, R J; Gomila, A; Solanas, G

    1977-01-01

    Twenty-one children with idiopathic nephrotic syndrome and minimal changes on renal biopsy were followed during all the disease. The average of follow-up was 37 months, with a range from 12 to 124 months. Recurrent proteinuria was the most important feature during the follow-up; 14 out of the patients showed frequent relapses, but only 2 patients showed major complication (peritonitis, septicemia) during relapses. Frequent relapses appeared most frequently in patients who began the disease before their fourth birthday, showed allergic history, had hypertension and red blood cells in urine, or had recurrent infections and finally, in those where proteinuria reappeared soon after prednisone therapy was ended. Prednisone alone was successful to induce remission, but it did not prevent frequent relapses. The association clorambucil-prednisone allowed lengthening of the period of remission and possibly for this reason the rate of relapses fell during the first 37 months of the follow-up. There are no signs which permit to predict the length of the disease and the frequent relapses can occur even after many years from the beginning of the disease. Special care of these patients avoids major complications. PMID:758027

  16. Sweet Syndrome in childhood*

    OpenAIRE

    dos Santos, Talita Batalha Pires; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; de Cerqueira, Ana Maria Mosca

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who...

  17. Clinical significance of measurement of plasma leptin and serum IL-6, IL-18 levels after treatment in patients with children nephrotic syndrome

    International Nuclear Information System (INIS)

    Objective: To explore the clinical significance of changes of plasma leptin and serum IL-6, IL-18 levels after treatment in patients with children nephrotic syndrome. Methods: Plasma leptin (with RIA) serum IL-6, IL-18 (with ELISA) levels were measured in 31 patients with children nephrotic syndrome both before and after treatment as well as in 30 controls. Results: Before treatment,the plasma leptin and serum IL-6, IL-18 levels were significantly higher than those in controls(P <0.01). After treatment for 3 months, the levels in patients though dropped markedly remained significantly higher than those in controls (P<0.05). Plasma leptin levels were positively correlated with IL-6, IL-18 levels (r=0.6138, 0.5784, P<0.01). Conclusion: Changes of plasma leptin and serum IL-6, IL-18 levels after treatment might be of prognostic importance in patients with children nephrotic syndrome. (authors)

  18. Calcium and vitamin D supplementation in children with frequently relapsing and steroid-dependent nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Ayi Dilla Septarini

    2012-01-01

    Full Text Available Background Children with frequently relapsing and steroid-dependent nephrotic syndrome (FRNS/SDNS are at risk for osteoporosis due to impaired metabolism of calcium and vitamin D. Objective To determine the effect of calcium and vitamin D supplementation on bone mineral density, serum ionized calcium levels and serum 25-hydroxy-vitamin D levels in children with FRNS and SDNS. Methods A clinical trial with a before and after design was performed. Subjects were SDNS or FRNS pediatric patients ≥ 5 years of age. Subjects received 800 mg elemental calcium and 400 IU vitamin D supplementation for 8 weeks. Serum ionized calcium, serum 25-hydroxy-vitamin D [25(OHD], and bone mineral density (BMD were determined before and after the supplementation. Results Of the 30 subjects, 28 completed the study. However, only 20 subjects underwent BMD determination before and after supplementation. Oof the 28 subjects, 22 had hypocalcemia and 26 had low vitamin D levels. Osteopenia was found in 14/20 subjects and osteoporosis was in 2/20 subjects. After 8 weeks of supplementation, mean serum ionized calcium increased from low [1.15 mmol/L (SD 0.03] to normal [1.18 mmol/L (SD 0.04] (P<0.001 levels, but mean serum 25(OHD only increased from vitamin D deficiency category [20 ng/mL (SD 7.7] to vitamin D insufficiency category [25.5 ng/mL (7.7] (P=0.010. Mean z-score BMD increased from -1.1 (SD 0.9 to -0.7 (SD 0.2 after supplementation (P<0.001. Conclusion Calcium vitamin D supplementation effectively increased serum ionized calcium, serum 25(OHD, and BMD in subjects with FRNS and SDNS. [Paediatr Indones. 2012;52:16-21].

  19. Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.

    Science.gov (United States)

    Srivastava, Tarak; Garola, Robert E; Kestila, Marjo; Tryggvason, Karl; Ruotsalainen, Vesa; Sharma, Mukut; Savin, Virginia J; Jalanko, Hannu; Warady, Bradley A

    2006-05-01

    We report a Caucasian boy of Italian descent with congenital nephrotic syndrome of the Finnish type (NPHS1, CNF, MIM 256300) who developed recurrence of proteinuria and hypoalbuminemia on the seventh post-operative day following living related renal transplantation from his paternal aunt. The allograft biopsy was normal except for effacement of podocyte foot processes on electron microscopy. He was treated by the substitution of mycophenolate mofetil with cyclophosphamide for 12 weeks, in addition to cyclosporine, prednisone and daclizumab. His proteinuria resolved quickly following the initiation of cyclophosphamide treatment, and he remains in remission 4 years after receiving his transplant. His native and allograft kidneys were evaluated for nephrin expression by immunohistochemistry, DNA analysis for the NPHS1 mutation, serum for the presence of auto-antibodies to nephrin by both enzyme-linked immunosorbent assay (ELISA) and fetal glomeruli immunofluorescence assay, and serum for glomerular permeability to albumin (Palb) activity using a functional in vitro assay for Palb. Nephrin expression was completely absent in the native kidney, while it was decreased in the allograft compared with normal. DNA analysis of the NPHS1 gene revealed mutations 3248G>T and 3250delG in exon 24, causing G1083V and 1084Vfs, respectively, inherited from his father, and 3478C>T in exon 27, that leads to R1160X, inherited from his mother. Serum was negative for auto-antibodies to nephrin. Interestingly, the Palb activity was increased at the time of recurrence of proteinuria following transplantation (Palb 0.73+/-0.10) and remained elevated when retested more than 3 years later (Palb 0.54+/-0.09). This is the first report of increased Palb activity in recurrence of proteinuria following transplantation in NPHS1. We speculate the role of increased Palb activity in the recurrence of proteinuria following transplantation in NPHS1. PMID:16518627

  20. Omega-3 fatty acid supplementation in primary nephrotic syndrome: effects on plasma lipids and coagulopathy.

    Science.gov (United States)

    Hall, A V; Parbtani, A; Clark, W F; Spanner, E; Huff, M W; Philbrick, D J; Holub, B J

    1992-12-01

    The effect of fish oil dietary supplementation on the dyslipidemia and coagulopathy of seven patients with nephrotic syndrome and hypoalbuminemia due to primary kidney disease was studied. Plasma lipids, platelet aggregation studies, simplate bleeding time, and fibrinogen levels were determined before and after 6 wk of treatment with fish oil (15 g/day of MaxEPA; 2.7 g of eicosapentenoic acid (EPA) and 1.8 g of docosahexenoic acid. Urea kinetics were determined from urine-urea concentration, urinary proteina, and urine volume. A 3-day dietary intake record was obtained from each patient before and after 6 wk of fish oil supplementation. There was no significant dietary change in protein, fat, or carbohydrate intake over the time period of the study. At study end, total triglycerides decreased from 2.98 +/- 1.31 to 2.18 +/- 1.14 mmol/L (P = 0.002), and very low-density lipoprotein-triglycerides decreased from 2.35 +/- 1.34 to 1.28 +/- 1.07 mmol/L (P = 0.01). Low-density lipoprotein (LDL) cholesterol increased from 5.18 +/- 1.74 to 7.35 +/- 2.83 mmol/L (P = 0.005). No significant changes occurred in bleeding time, platelet count, hematocrit, red blood cell flexibility, or whole blood viscosity. Platelet aggregation responses to collagen and arachidonic acid were consistently reduced after treatment, but there was no change in platelet response to ADP. The platelet membrane phospolipids showed a significantly increased incorporation of EPA after the fish oil diet (P = 0.03).(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1477328

  1. Systematic biomarker discovery and coordinative validation for different primary nephrotic syndromes using gas chromatography-mass spectrometry.

    Science.gov (United States)

    Lee, Jung-Eun; Lee, Yu Ho; Kim, Se-Yun; Kim, Yang Gyun; Moon, Ju-Young; Jeong, Kyung-Hwan; Lee, Tae Won; Ihm, Chun-Gyoo; Kim, Sooah; Kim, Kyoung Heon; Kim, Dong Ki; Kim, Yon Su; Kim, Chan-Duck; Park, Cheol Whee; Lee, Do Yup; Lee, Sang-Ho

    2016-07-01

    The goal of this study is to identify systematic biomarker panel for primary nephrotic syndromes from urine samples by applying a non-target metabolite profiling, and to validate their utility in independent sampling and analysis by multiplex statistical approaches. Nephrotic syndrome (NS) is a nonspecific kidney disorder, which is mostly represented by minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and membranous glomerulonephritis (MGN). Since urine metabolites may mirror disease-specific functional perturbations in kidney injury, we examined urine samples for distinctive metabolic changes to identify biomarkers for clinical applications. We developed unbiased multi-component covarianced models from a discovery set with 48 samples (12 healthy controls, 12 MCD, 12 FSGS, and 12 MGN). To extensively validate their diagnostic potential, new batch from 54 patients with primary NS were independently examined a year after. In the independent validation set, the model including citric acid, pyruvic acid, fructose, ethanolamine, and cysteine effectively discriminated each NS using receiver operating characteristic (ROC) analysis except MCD-MGN comparison; nonetheless an additional metabolite multi-composite greatly improved the discrimination power between MCD and MGN. Finally, we proposed the re-constructed metabolic network distinctively dysregulated by the different NSs that may deepen comprehensive understanding of the disease mechanistic, and help the enhanced identification of NS and therapeutic plans for future. PMID:27247212

  2. High absolute risks and predictors of venous and arterial thromboembolic events in patients with nephrotic syndrome: results from a large retrospective cohort study.

    NARCIS (Netherlands)

    Mahmoodi, B.K.; Kate, M.K. ten; Waanders, F.; Veeger, N.J.; Brouwer, J.L.; Vogt, L.; Navis, G.; Meer, J.W.M. van der

    2008-01-01

    BACKGROUND: No data are available on the absolute risk of either venous thromboembolism (VTE) or arterial thromboembolism (ATE) in patients with nephrotic syndrome. Reported risks are based on multiple case reports and small studies with mostly short-term follow-up. We assessed the absolute risk of

  3. Gene-level integrated metric of negative selection (GIMS prioritizes candidate genes for nephrotic syndrome.

    Directory of Open Access Journals (Sweden)

    Matthew G Sampson

    Full Text Available Nephrotic syndrome (NS gene discovery efforts are now occurring in small kindreds and cohorts of sporadic cases. Power to identify causal variants in these groups beyond a statistical significance threshold is challenging due to small sample size and/or lack of family information. There is a need to develop novel methods to identify NS-associated variants. One way to determine putative functional relevance of a gene is to measure its strength of negative selection, as variants in genes under strong negative selection are more likely to be deleterious. We created a gene-level, integrated metric of negative selection (GIMS score for 20,079 genes by combining multiple comparative genomics and population genetics measures. To understand the utility of GIMS for NS gene discovery, we examined this score in a diverse set of NS-relevant gene sets. These included genes known to cause monogenic forms of NS in humans as well as genes expressed in the cells of the glomerulus and, particularly, the podocyte. We found strong negative selection in the following NS-relevant gene sets: (1 autosomal-dominant Mendelian focal segmental glomerulosclerosis (FSGS genes (p = 0.03 compared to reference, (2 glomerular expressed genes (p = 4×10(-23, and (3 predicted podocyte genes (p = 3×10(-9. Eight genes causing autosomal dominant forms of FSGS had a stronger combined score of negative selection and podocyte enrichment as compared to all other genes (p = 1 x 10(-3. As a whole, recessive FSGS genes were not enriched for negative selection. Thus, we also created a transcript-level, integrated metric of negative selection (TIMS to quantify negative selection on an isoform level. These revealed transcripts of known autosomal recessive disease-causing genes that were nonetheless under strong selection. We suggest that a filtering strategy that includes measuring negative selection on a gene or isoform level could aid in identifying NS-related genes. Our GIMS and TIMS

  4. Clinical significance of changes of plasma concentrations of activators of platelet origin in patients with primary nephrotic syndrome (PNS)

    International Nuclear Information System (INIS)

    Objective: To study the relationship between plasma concentrations of thromboxane (TXB2 ), platelet α-granule membrane protein (GMP-140) and progression of the disease process in patients with primary nephrotic syndrome. Methods: Plasma TXB2 (with RIA) and GMP-140 (with IRMA) concentrations were determined in 31 patients with PNS both before and after prednisone treatment as well as in 31 controls. Results: Plasma contents of TXB2 in patients with PNS were significantly higher than those in the controls (P2 concentrations dropped markedly to near normal levels. However, those who were prednisone-dependent or non-responsive had little changes in TXB2 levels (P>0.05). Plasma GMP-140 concentrations were significantly positively correlated with plasma TXB2 concentrations (r=0.6945, t=3.6134, P2 and GMP-140 concentrations after prednisone therapy is an indicator of treatment success with good prognosis. (authors)

  5. SOCS3 and SOCS5 mRNA expressions may predict initial steroid response in nephrotic syndrome children

    Directory of Open Access Journals (Sweden)

    Witold Szaflarski

    2012-01-01

    Full Text Available Suppressors of Cytokine Signaling (SOCS inhibit Signal Transducers and Activators of Transcription (STATs phosphorylation by binding and inhibiting Janus Kinases (JaKs. The aim of the present study was to evaluate the influence of glucocorticosteroids on the JaK/STAT signaling pathway in the leukocytes of nephrotic syndrome (NS patients. The study group was composed of 34 steroid sensitive NS (SSNS children and 20 steroid resistant NS (SRNS subjects. Gene expression was assessed by real-time PCR using pre-designed human JaK/STAT PCR array. Protein expression was evaluated using ELISA assay (plasma concentration and immunofluorescence (in situ protein expression. In SSNS children, the initial increased expression of JaK1, JaK2, JaK3, STAT1, STAT2, STAT6, TYK2, SOCS1, SOCS2, SOCS3, SOCS4 and SOCS5 was reduced back to the control limits. Similarly, in SRNS patients the increased levels of almost all mRNA expressions for the abovementioned genes were decreased, with the exceptions of SOCS3 and SOCS5 expressions. These mRNA expressions were still significantly increased and correlated with early unfavorable course of nephrotic syndrome in children. Plasma levels of SOCS3, SOCS5, IL-6 and IL-20 were significantly increased in SRNS subjects after six weeks of steroids medication compared to SSNS and control participants. We conclude that SOCS3 and SOCS5 increased mRNA expressions might predict initial resistance to steroids in NS patients. (Folia Histochemica et Cytobiologica 2011; Vol. 49, No. 4, pp. 719–728

  6. Complete Remission of Nephrotic Syndrome Without Resolution of Amyloid Deposit After Anti-Tumor Necrosis Factor α Therapy in a Patient With Ankylosing Spondylitis.

    Science.gov (United States)

    Lee, Yu Ho; Kim, Eun Young; Jeong, Da Wun; Kim, Yang-Gyun; Lee, Sang-Ho; Song, Ran; Yang, Hyung In; Lim, Sung Jig; Moon, Ju-Young; Lee, Sang-Hoon

    2016-03-01

    In secondary amyloid A amyloidosis resulting from rheumatologic diseases, tumor necrosis factor α blockers have been reported to be effective in the treatment of both arthritis and amyloidosis. However, there have been few reports concerning the alterations of renal tissue histology before and after long-term tumor necrosis factor α blockers therapy in secondary renal amyloidosis. We report the histological change after tumor necrosis factor α blocker therapy in patient with amyloid A amyloidosis and nephrotic syndrome secondary to underlying ankylosing spondylitis. The patient achieved complete remission of nephrotic syndrome after 17 months of etanercept treatment. We performed the second kidney biopsy after 40 months, and there was little change in the degree of amyloid deposition in the mesangial area and capillary loops compared with the first biopsy. The interstitial inflammation and foot process effacement, however, were fully recovered. PMID:26906302

  7. Relapse or Worsening of Nephrotic Syndrome in Idiopathic Membranous Nephropathy Can Occur even though the Glomerular Immune Deposits Have Been Eradicated

    OpenAIRE

    Barnes, Chadwick E.; Wilmer, William A.; Hernandez, Jr., Raul A.; Valentine, Christopher; Hiremath, Leena S.; Nadasdy, Tibor; Satoskar, Anjali A.; Shim, Rose L.; Rovin, Brad H; Hebert, Lee A.

    2011-01-01

    Background: Relapse or worsening of nephrotic syndrome (NS) in idiopathic membranous nephropathy (IMN) is generally assumed to be due to recurrent disease. Here we document that often that may not be the case. Subjects and Methods: This is a prospective study of 7 consecutive IMN patients whose renal status improved, then worsened after completing a course of immunosuppressive therapy. Each underwent detailed testing and repeat kidney biopsy. Results: In 4 patients (group A), the biopsy showe...

  8. Neph1 Is Reduced in Primary Focal Segmental Glomerulosclerosis, Minimal Change Nephrotic Syndrome, and Corresponding Experimental Animal Models of Adriamycin-Induced Nephropathy and Puromycin Aminonucleoside Nephrosis

    OpenAIRE

    Hulkko, Jenny; Patrakka, Jaakko; Lal, Mark; Tryggvason, Karl; Hultenby, Kjell; Wernerson, Annika

    2014-01-01

    Background/Aims The transmembrane proteins Neph1 and nephrin form a complex in the slit diaphragm (SD) of podocytes. As recent studies indicate an involvement of this complex in the polymerization of the actin cytoskeleton and proteinuria, we wanted to study the subcellular localization of Neph1 in the normal human kidney and its expression in focal segmental glomerulosclerosis (FSGS), minimal change nephrotic syndrome (MCNS), and the corresponding experimental models of Adriamycin-induced ne...

  9. Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

    Science.gov (United States)

    Kondo, Daiki; Noguchi, Atsuko; Tamura, Hiroaki; Tsuchida, Satoko; Takahashi, Ikuko; Kubota, Hiroki; Yano, Tamami; Oyama, Chikako; Sawaishi, Yukio; Moriwaki, Shinichi; Takahashi, Tsutomu

    2016-01-01

    Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP) and Cockayne syndrome (CS). In addition to the cutaneous photosensitivity shared in XP and CS, CS is featured by growth failure, neurological deterioration, microcephaly, and deep sunken eyes. XP/CS complex is an extremely rare type of NER disorder with a distinct phenotype that is characterized by the skin and eye pathology of XP and the somatic and neurological abnormalities of CS. Some of CS cases have been reported to be complicated with renal failure, but the genetic background or the etiology of the renal failure has not been reported. We herein report a 1-year-old Japanese boy with XP/CS complex, complicated by nephrotic syndrome. Diagnosis was confirmed by the presence of compound heterozygous mutations, G47R (c.139G>A) and R616G (c.1846C>G), in the excision repair cross-complementation group 2 (ERCC2) gene. The kidney biopsies, performed at the age of 1 year and 2 months, revealed diffuse expansion of the mesangial matrix and segmental glomerulosclerosis under light microscopy, and diffused thin capillary walls with partially lamellated regions under electron microscopy. Notably, high levels of urinary 8-hydroxy-2'-deoxyguanosin, known as an oxidative stress marker, were observed during the clinical course. The patient died at the age of 1 year and 11 months because of renal failure. We suggest the involvement of oxidative stress in the pathogenesis of nephrotic syndrome in NER disorders. PMID:27396511

  10. Pattern of steroid resistant nephrotic syndrome in children living in the kingdom of Saudi Arabia: A single center study

    Directory of Open Access Journals (Sweden)

    Kari Jameela

    2009-01-01

    Full Text Available Steroid resistant nephrotic syndrome (SRNS remains a challenge facing pediatric nephrologists. The underlying histopathology usually affects the course of the disease and the response to treatment. We studied the pattern of histopathology in children with SRNS who presented to the King Abdul Aziz University Hospital (KAUH, Jeddah, Saudi Arabia. The records of all children with primary SRNS, who were seen between 2002 and 2007 were reviewed. Only patients who had undergone a renal biopsy were included in the study. The histopathology slides were reviewed by two renal pathologists independently. Patients with congenital nephrotic syndrome, lupus or sickle cell disease, were excluded from the study. Thirty-six children fulfilled the inclusion criteria, and included 25 girls and 11 boys with female to male ratio of 2.3:1. Fifty percent of the children (n=18 were Saudi and the remaining 50% were from various other racial backgrounds (9 Asians, 4 Arabs, 2 Africans and 3 from the Far East. Their mean age at presentation was 4.3 ± 3.0 years (range 1-12 years. The mean serum albumin at presentation was 15.6 ± 7.1 g/L and all of them had 4+ proteinuria on urinalysis. Five children had elevated serum creatinine at presentation while the mean serum creatinine was 50.4 ± 45.6 µmol/L. Three children had low serum complement levels at presentation and none were positive for hepatitis B surface antigen or antinuclear antibody (ANA. The renal histopathology was compatible with focal and segmental glomerulosclerosis (FSGS in 39% (n=14, IgM nephro-pathy in 28% (n=10, mesengioproliferative glomerulonephritis (MesPGN in 17% (n=6, mini-mal change disease (MCD and C1q nephropathy (C1qNP in 8% each (n=3 + 3 and IgA nephro-pathy in 3% (n=1. Our retrospective review shows that FSGS was the commonest underlying histopathology in children who presented with SRNS followed by IgM nephropathy and other variants of MCD such as MesPGN. C1qNP was the underlying cause in some

  11. Oxidative Stress and Nuclear Factor κB (NF-κB) Increase Peritoneal Filtration and Contribute to Ascites Formation in Nephrotic Syndrome.

    Science.gov (United States)

    Udwan, Khalil; Brideau, Gaëlle; Fila, Marc; Edwards, Aurélie; Vogt, Bruno; Doucet, Alain

    2016-05-20

    Water accumulation in the interstitium (edema) and the peritoneum (ascites) of nephrotic patients is classically thought to stem from the prevailing low plasma albumin concentration and the decreased transcapillary oncotic pressure gradient. However, several clinical and experimental observations suggest that it might also stem from changes in capillary permeability. We addressed this hypothesis by studying the peritoneum permeability of rats with puromycin aminonucleoside-induced nephrotic syndrome. The peritoneum of puromycin aminonucleoside rats displayed an increase in the water filtration coefficient of paracellular and transcellular pathways, and a decrease in the reflection coefficient to proteins. It also displayed oxidative stress and subsequent activation of NF-κB. Scavenging of reactive oxygen species and inhibition of NF-κB prevented the changes in the water permeability and reflection coefficient to proteins and reduced the volume of ascites by over 50%. Changes in water permeability were associated with the overexpression of the water channel aquaporin 1, which was prevented by reactive oxygen species scavenging and inhibition of NF-κB. In conclusion, nephrotic syndrome is associated with an increased filtration coefficient of the peritoneum and a decreased reflection coefficient to proteins. These changes, which account for over half of ascite volume, are triggered by oxidative stress and subsequent activation of NF-κB. PMID:27033704

  12. Assay of urinary protein-bound sialic acid can differentiate steroidsensitive nephrotic syndrome from steroid-resistant cases

    Directory of Open Access Journals (Sweden)

    Niranjan Gopal

    2016-01-01

    Full Text Available The protein selectivity index as measured from the ratio of urinary immunoglobulin to albumin failed to differentiate between steroid-sensitive (SS and steroid-resistant (SR cases of nephrotic syndrome (NS. Sialic acid contributes negative charges to many plasma proteins. The negative charge is a determinant of protein excretion rate. The prognostic significance of assay of urinary excretion of protein-bound sialic acid in NS has not been evaluated. Hence, the present study was designed to evaluate whether measurement of urinary protein bound sialic acid (UPBSA can be used as a marker to differentiate SS from SR cases of NS. The urine samples of 70 (47 SS and 23 SR pediatric NS children were assayed for UPBSA by Aminoff′s method. The levels were compared and the receiver-operator curve was drawn to determine the optimum cutoff point to differentiate among the groups before starting the therapy. The excretion of UPBSA in SR cases of NS was significantly higher than that of SS cases (P<0.05. The optimum cutoff limit for UPBSA was 2.71 μg/mg of proteins with 75% sensitivity and 75.5% specificity for differentiating SS cases from SR cases (area under the plasma- concentration time curve = 0.814, P = 0.009. We conclude that UPBSA can differentiate SR cases from SS cases of NS in pediatric patients and may help in predicting the response to steroid therapy.

  13. Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1

    Energy Technology Data Exchange (ETDEWEB)

    Maennikkoe, M.; Kestilae, M.; Tryggvason, K. [Univ. of Oulu (Finland)] [and others

    1995-12-01

    We have recently localized the gene for congenital nephrotic syndrome of the Finnish type (CNF) to chromosome 19q12-13.1. On the basis of observed recombination events, the gene was localized between markers D19S416/D19S425/D19S213/D19S208/D19S191 and D19S224. Here we have extended the mapping efforts, on the basis of a detailed physical map of the region. By means of three new polymorphic markers - D19S608, D19S609, and D19S610 - developed in this study, the critical candidate region could be further restricted. Significant linkage disequilibrium was observed with marker D19S610, D19S608, D19S224, and D19S220, the strongest allelic association being 84% with marker D19S610 at 19q13.1. This suggests that the CNF gene locus lies in close proximity to marker D19S610. Combination of the informative markers revealed four main haplotype categories. Different geographic distribution was observed between these haplotype groups when they were placed on the map of Finland according to the birthplaces of grandparents. 38 refs., 2 figs., 4 tabs.

  14. Nephrotic syndrome: an under-recognised immune-mediated complication of non-myeloablative allogeneic haematopoietic cell transplantation.

    Science.gov (United States)

    Srinivasan, R; Balow, J E; Sabnis, S; Lundqvist, A; Igarashi, T; Takahashi, Y; Austin, H; Tisdale, J; Barrett, J; Geller, N; Childs, R

    2005-10-01

    Nephrotic syndrome (NS) is an extremely rare complication of myeloablative allogeneic haematopoietic cell transplantation (HCT) that usually occurs in association with chronic graft-versus-host disease (C-GVHD). We observed an unexpectedly high incidence of NS in a cohort of 163 consecutive patients undergoing non-myeloablative HCT from a related human leucocyte antigen-compatible donor. Seven patients developed NS at a median 318 d post-transplant (range 119-1203 d; cumulative incidence 6.1%). The median age at onset of NS was 46 years (range 33-59 years); three of the seven patients had no evidence of C-GVHD while four had accompanying limited C-GVHD. At diagnosis, median proteinuria was 16.5 g/24 h (range 3-24 g/24 h). Renal biopsy was performed in four cases and revealed membranous nephropathy. NS was not always associated with other symptoms of C-GVHD, and in contrast to previous reports, usually did not improve with the re-initiation of aggressive immunosuppression, resulting in progressive renal failure necessitating dialysis in three of seven cases. Membranous nephropathy resulting in NS is a previously unrecognised and clinically significant complication of non-myeloablative HCT. PMID:16173966

  15. Significance of technetium-99m human serum albumin diethylenetriamine pentaacetic acid scintigraphy in patients with nephrotic syndrome.

    Directory of Open Access Journals (Sweden)

    Tsuyoshi Takashima

    Full Text Available It is thought that a large amount of albumin leaking from the glomerulus in nephrotic syndrome (NS is reabsorbed at the proximal tubule and catabolized. Therefore, it is possible the final quantity of urinary protein does not always reflect the amount of leakage of protein from the glomerulus. We experienced two cases without nephrotic range proteinuria thought to involve hypoproteinemia due to the same pathophysiology as NS. On these patients, we performed protein leakage scintigraphy with technetium-99m human serum albumin diethylenetriamine pentaacetic acid (99mTc-HSAD to exclude a diagnosis of protein-losing gastroenteropathy and observed diffuse positive accumulation in the kidneys with more intense uptake in the kidney than the liver on the anterior view 24 hours after 99mTc-HSAD administration. In healthy adults intravenously given 99mTc-HSAD, the same dynamics are observed as in albumin metabolism, and the organ radioactivity of the liver and kidneys after 24 hours is equal. Therefore, we thought it was possible that the renal uptake 24 hours after 99mTc-HSAD administration was a characteristic finding of NS. In order to confirm it, the subjects were divided into two groups: the NS group (n = 10 and the non-NS group (n = 7. We defined more intense uptake in the kidney than the liver on the anterior view 24 hours after 99mTc-HSAD administration as Dense Kidney (+. Furthermore, we designed regions of interest in the right and left kidneys and liver on anterior and posterior images, then calculated the kidney-liver ratio. Nine of the ten patients had Dense Kidney (+ in the NS group, compared to none in the non-NS group. And the kidney-liver ratio was significantly higher in the NS group than in the non-NS group on each view in the bilateral kidneys. In conclusion, our results suggest that the renal uptake 24 hours after 99mTc-HSAD administration is a characteristic finding of NS.

  16. Serum and urinary lipoproteins in the human nephrotic syndrome: evidence for renal catabolism of lipoproteins

    Energy Technology Data Exchange (ETDEWEB)

    Shore, V.G.; Forte, T.; Licht, H.; Lewis, S.B.

    1982-03-01

    The urinary excretion of lipoproteins and the possibility of catabolic alterations on glomerular filtration were investigated in four nephrotic subjects difering in etiology, serum lipoprotein profile, and 24 hr urinary output of protein and lipids. The apolipoproteins and lipoproteins of urine were compared with those of serum with respect to distribution profile, physical properties, and composition. As expected from molecular sieving effects during glomerular filtration, the urinary HDL were more abundant than the lower density lipoproteins even when the plasma LDL was elevated markedly. Intact apolipoproteins were not found in the concentrated urinary fraction isolated by ultrafiltration between the limits of 10/sup 4/ and 5 x 10/sup 4/ daltons. On the basis of immunoreactivity, gel electrophoresis, and amino acid composition, apolipoproteins B and AI are the major and minor proteins, respectively, of urinary LDL, and apo B is the major protein of the urinary IDL and VLDL. Apolipoproteins AI, AII, CI, CIII, and possibly AIV were isolated from the urinary HDL. As much as 20% of the protein moiety of the urinary HDL appeared to be large apolipoprotien fragments with molecular weights and isoelectric points similar to those of apo CII and apo CIII. The lower density classes of urinary lipoproteins also appeared to have lost apo E and apo C's and to have undergone partial proteolysis.

  17. A relationship between proteinuria and acute tubulointerstitial disease in rats with experimental nephrotic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Eddy, A.A.; McCulloch, L.; Liu, E.; Adams, J. (Hospital for Sick Children, Toronto, ON (Canada))

    1991-05-01

    The relationship between tubulointerstitial nephritis and proteinuria was characterized in experimental nephrosis in rats. In one group, proteinuria induced by aminonucleoside of puromycin (PAN) was reduced by using an 8% protein diet and adding the angiotensin I-converting enzyme (ACE) inhibitor enalapril to the drinking water. Two control groups were injected with saline and PAN, respectively, and fed a 27% protein diet. The first group had significantly reduced albuminuria and a definite attenuation of tubular cell injury. There was a strong positive correlation between the number of interstitial macrophages and albuminuria. The beneficial effect was reproduced by dietary-protein restriction alone, whereas ACE inhibition alone had an insignificant effect on the degree of proteinuria. Depletion of circulating T lymphocytes in one group of nephrotic rats eliminated interstitial lymphocytes but did not affect interstitial macrophage influx. Inhibition of the in situ proliferation of resident interstitial macrophages by unilateral kidney irradiation failed to change the intensity of the macrophage infiltration. Treatment of rats with sodium maleate produced proximal tubular cell toxicity but interstitial inflammation did not develop, suggesting that the latter is not a nonspecific response to tubular injury. These studies demonstrate a strong relationship between tubulointerstitial nephritis and the severity of proteinuria in experimental nephrosis.

  18. A relationship between proteinuria and acute tubulointerstitial disease in rats with experimental nephrotic syndrome

    International Nuclear Information System (INIS)

    The relationship between tubulointerstitial nephritis and proteinuria was characterized in experimental nephrosis in rats. In one group, proteinuria induced by aminonucleoside of puromycin (PAN) was reduced by using an 8% protein diet and adding the angiotensin I-converting enzyme (ACE) inhibitor enalapril to the drinking water. Two control groups were injected with saline and PAN, respectively, and fed a 27% protein diet. The first group had significantly reduced albuminuria and a definite attenuation of tubular cell injury. There was a strong positive correlation between the number of interstitial macrophages and albuminuria. The beneficial effect was reproduced by dietary-protein restriction alone, whereas ACE inhibition alone had an insignificant effect on the degree of proteinuria. Depletion of circulating T lymphocytes in one group of nephrotic rats eliminated interstitial lymphocytes but did not affect interstitial macrophage influx. Inhibition of the in situ proliferation of resident interstitial macrophages by unilateral kidney irradiation failed to change the intensity of the macrophage infiltration. Treatment of rats with sodium maleate produced proximal tubular cell toxicity but interstitial inflammation did not develop, suggesting that the latter is not a nonspecific response to tubular injury. These studies demonstrate a strong relationship between tubulointerstitial nephritis and the severity of proteinuria in experimental nephrosis

  19. Plasmin in nephrotic urine activates the epithelial sodium channel

    DEFF Research Database (Denmark)

    Svenningsen, Per; Bistrup, Claus; Friis, Ulla G; Bertog, Marko; Haerteis, Silke; Krueger, Bettina; Stubbe, Jane; Jensen, Ole Nørregaard; Thiesson, Helle C; Uhrenholt, Torben R; Jespersen, Bente; Jensen, Boye L; Korbmacher, Christoph; Skøtt, Ole

    2008-01-01

    Proteinuria and increased renal reabsorption of NaCl characterize the nephrotic syndrome. Here, we show that protein-rich urine from nephrotic rats and from patients with nephrotic syndrome activate the epithelial sodium channel (ENaC) in cultured M-1 mouse collecting duct cells and in Xenopus...... plasmin abolished urinary protease activity and the ability to activate ENaC. In nephrotic syndrome, tubular urokinase-type plasminogen activator likely converts filtered plasminogen to plasmin. Consistent with this, the combined application of urokinase-type plasminogen activator and plasminogen...

  20. Urinary Plasmin Inhibits TRPV5 in Nephrotic-Range Proteinuria

    OpenAIRE

    Tudpor, Kukiat; Laínez, Sergio; Kwakernaak, Arjan J.; Kovalevskaya, Nadezda V.; Verkaart, Sjoerd; van Genesen, Siebe; van der Kemp, AnneMiete; Navis, Gerjan; Bindels, René J. M.; Hoenderop, Joost G. J.

    2012-01-01

    Urinary proteins that leak through the abnormal glomerulus in nephrotic syndrome may affect tubular transport by interacting with membrane transporters on the luminal side of tubular epithelial cells. Patients with nephrotic syndrome can develop nephrocalcinosis, which animal models suggest may develop from impaired transcellular Ca2+ reabsorption via TRPV5 in the distal convoluted tubule (DCT). In nephrotic-range proteinuria, filtered plasminogen reaches the luminal side of DCT, where it is ...

  1. Turner syndrome in childhood and adolescence

    OpenAIRE

    McCarthy, Kateri; Bondy, Carolyn A

    2008-01-01

    This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged 7–17 years) prospectively evaluated at the National Institute of Child Health since 2001. Approximately 25% were diagnosed prenatally or at birth owing to webbed neck and other features typical of fetal lymphedema, few were diagnosed during early childhood, with the majority undiagnosed until age 9 years or older. Major clini...

  2. Effect of calcium and vitamin D supplementation on serum calcium level in children with idiopathic nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Vaya Dasitania

    2014-05-01

    Full Text Available Background Patients with idiopathic nephrotic syndrome (NS may develop hypocalcemia caused by low levels of albumin and vitamin D-binding protein, which subsequently decreases calcium absorption in the intestine. Hypocalcemia may result in neuromuscular manifestations, such as Chvostek’s and Trosseau’s signs. Objectives To evaluate the effect of calcium and vitamin D supplementation on hypocalcemia and its clinical manifestations in idiopathic NS children. Methods A randomized, single-blind, controlled trial was performed in idiopathic NS patients aged 1−14 years. Subjects were divided into treatment and placebo groups. Subjects in the treatment group received 800 mg elemental calcium and 400 IU vitamin D supplementation, while they in control group received placebo syrup, both for 8 weeks. Serum calcium and manifestations of hypocalcemia were examined before and after supplementation. Results Thirty subjects completed the study (15 in each group. Seventeen subjects experienced hypocalcemia. Chvostek’s and Trosseau’s signs were observed in 6 subjects in the treatment group and 2 subjects in the placebo group (P= 0.427. After 8 weeks of intervention, Chvostek’s and Trosseau’s signs disappeared in both groups, and calcium levels were significantly increased in both groups compared to the levels before intervention. However, there was no significant difference in serum calcium levels after 8 weeks between the treatment and placebo groups (P =0.707. Conclusion Normalization of serum calcium levels and improved clinical manifestations of hypocalcemia occur both in NS patients who receive calcium and vitamin D supplementation and those who do not.

  3. IER3 Expression in Childhood Myelodysplastic Syndrome

    DEFF Research Database (Denmark)

    de Vries, Andrica; Zwaan, Christian M.; Danen van Ooschot, Astrid;

    Background: Childhood myelodysplastic syndrome (MDS) is a rare disease accounting for less than 5% of all hematological malignancies. In about 50% of the MDS cases an abnormal karyotype is found by conventional karyotyping, of which chromosome 6 is involved in 10%. The immediate-early-response 3...... aberrations and that low IER3 expression was associated with a worse outcome. Therefore, we investigated the frequency and prognostic impact of IER3 expression in childhood MDS. Methods: IER3 mRNA expression was determined by quantitative real-time PCR in 58 childhood MDS patients of which 17 carried a.......01–73.3% relative to GAPDH expression) and 3.3% in normal bone marrow (range 0.81–85.5% relative to GAPDH expression) (p=0.05). A more than 4-fold decrease in IER3 expression below the mean of healthy controls was found in 74% (43/58) of the childhood MDS patients. There was no difference in IER3 mRNA expression...

  4. Murine membranous nephropathy: immunization with α3(IV) collagen fragment induces subepithelial immune complexes and FcγR-independent nephrotic syndrome.

    Science.gov (United States)

    Zhang, Jun-Jun; Malekpour, Mahdi; Luo, Wentian; Ge, Linna; Olaru, Florina; Wang, Xu-Ping; Bah, Maimouna; Sado, Yoshikazu; Heidet, Laurence; Kleinau, Sandra; Fogo, Agnes B; Borza, Dorin-Bogdan

    2012-04-01

    Membranous nephropathy (MN) is a leading cause of nephrotic syndrome in adults and a significant cause of end-stage renal disease, yet current therapies are nonspecific, toxic, and often ineffective. The development of novel targeted therapies requires a detailed understanding of the pathogenic mechanisms, but progress is hampered by the lack of a robust mouse model of disease. We report that DBA/1 mice as well as congenic FcγRIII(-/-) and FcRγ(-/-) mice immunized with a fragment of α3(IV) collagen developed massive albuminuria and nephrotic syndrome, because of subepithelial deposits of mouse IgG and C3 with corresponding basement membrane reaction and podocyte foot process effacement. The clinical presentation and histopathologic findings were characteristic of MN. Although immunized mice produced genuine anti-α3NC1 autoantibodies that bound to kidney and lung basement membranes, neither crescentic glomerulonephritis nor alveolitis ensued, likely because of the predominance of mouse IgG1 over IgG2a and IgG2b autoantibodies. The ablation of activating IgG Fc receptors did not ameliorate injury, implicating subepithelial deposition of immune complexes and consequent complement activation as a major effector pathway. We have thus established an active model of murine MN. This model, leveraged by the availability of genetically engineered mice and mouse-specific reagents, will be instrumental in studying the pathogenesis of MN and evaluating the efficacy of novel experimental therapies. PMID:22371398

  5. Correlation between Resilience and Depression in Children with Nephrotic Syndrome%肾病综合征患儿的韧性与抑郁的相关性

    Institute of Scientific and Technical Information of China (English)

    杨红霞; 刘化侠; 李蕾; 万学英; 崔文香

    2012-01-01

    Objective To investigate the resilience and depression in children with nephrotic syndrome and the correlation between them. Methods From April 2009 to February 2010,104 children with nephrotic syndrome from 5 Grade-HI Class-A hospitals were surveyed with personal information questionnaire, chronic illness children's resilience scale(CICRS) ,children's depression inventory (CDI). Results The average score of resilience in children with nephrotic syndrome was 99. 53±14. 33. There were 20 cases with poor state of mental resilience, accounting for 19. 23%; 60 cases were observed with good mental resilience, accounting for 57. 69% s 24 cases with excellent mental resilience, accounting for 23. 08%. The average depression score in children with nephrotic syndrome as 11. 83 ±7. 83. There were 18 cases with symptoms of depression,accounting for 17. 31%; 86 cases showed no' symptoms of depression at all, accounting for 82. 69%. As for children suffering from nephrotic syndrome, there was a moderately negative correlation between the scores of resilience and depression(r= -0. 582,P<0. 01). The correlation coefficients of all the dimensions and the depression score were negatively correlated(P<0. 01). Conclusion The medical staff should carry out the resilience intervention to enhance disease management behavior of children and promote their mental health.%目的 调查肾病综合征患儿的韧性和抑郁状况,并探讨两者之间的相关性.方法 便利抽样法选取2009年4月至2010年2月在山东省5所三级甲等医院进行治疗的104名肾病综合征患儿为研究对象,采用自制的一般情况调查表、慢性病儿童韧性量表(chronic illness children's resilience scale,CICRS)、儿童抑郁量表(children's depression inventory,CDI)对其进行调查.结果 肾病综合征患儿韧性水平均分为(99.53±14.33)分,韧性水平差者20例(19.23%);韧性水平较好者60例(57.69%);韧性水平很好者24例(23.08%).肾病综

  6. The metabolic syndrome and body composition in childhood cancer survivors

    OpenAIRE

    Jae Hoon Chung; Ki Woong Sung; Keon hee Yoo; Soo Hyun Lee; Sung-Yoon Cho; Se-Hwa Kim; Sung Won Park; Su Jin Kim; Young Bae Sohn; Hong Hoe Koo; Dong-Kyu Jin

    2011-01-01

    Purpose : Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea. Methods : We performed a retrospective review of medical records of 98 childhood cancer survivors who were diagnosed and c...

  7. The role of ventilation-perfusion lung scintigraphy in the diagnosis of pulmonary embolism in nephrotic syndrome patients

    International Nuclear Information System (INIS)

    Purpose: Patients with nephrotic syndrome (NS) have a high risk to develop thrombosis and even to progress to pulmonary embolism (PE). This study was performed to investigate the possible role of ventilafion-perfusion (V/Q) lung scans to evaluate PE in NS patients. Methods: 194 patients with NS (8 cases of minimal change NS (MCNS), 33 of mesangial proliferative (MsPGN), 19 of Mesangiocapillary glomerulonephritis (MCGN), 69 of membranous nephropathy, 56 of focal and segmental glomerular sclerosis (FSGS), and 9 of NS induced from purpura, SLE, diabetes mellitus or amyloidosis) were studied. In all patients, the development probability of PE was assessed based on the results of V/Q lung scans (Technegas for ventilation and Tc-99m MAA for perfusion imaging). The findings of V/Q lung scans were interrupted into high, intermediate, low or no probability of PE. The patients' clinical symptoms and signs were observed. Additional examinations included chest radiography, and serum biochemical tests such as albumin, blood urea nitrogen (BUN), creatinine (Cr), plasma fibrinogen (Fg), antithrombin III (AT III), prothrombin time (PT), and activated partial thromboplastin time (APTT). Results: Based on the findings of V/Q lung scans, 39 (20%) of the patients were categorized as having a high probability of PE and 56 (29%) as intermediate or low probability of PE. The occurrence of PE in patients with membranous nephropathy (23 cases, 33%) was significantly higher than that in those other pathological types. In the 86 patients with severe hypoalbuminemia (serum albumin concentration = 20g/L. The Fg and AT III levels were found to be correlated with the occurrence of PE. The clinical symptoms and signs, chest radiograph results and values of BUN, Cr, PT and APTT were not consistent with the occurrence of PE. Conclusion: Though usually clinically silent, PE is not a rare complication in patients with NS, especially in those with membranous nephropathy. In this study, the occurrence

  8. Dual energy CT pulmonary angiography for evaluation of pulmonary embolism in pediatric patients with nephrotic syndrome

    International Nuclear Information System (INIS)

    Objective: The purpose of this study was to evaluate the value of dual energy CT pulmonary angiography (DE-CTPA) in detection of pulmonary embolism in the children with nephritic syndrome. Materials and Methods: Fifty-two patients aged ≤18 years were included into this study from April 2010 to June 2011. Two radiologists reviewed and recorded the presence of perfusion defects or filling defects at dual energy CT perfusion images and CTPA images. CT enhancement values of embolic and nonembolic regions were measured with automatic and manual methods. Results: Of 52 patients, 11 (21.2%, 11/52) patients had pulmonary embolism. Of 11 patients with pulmonary embolism, 9 patients had lobar (n=3), segmental (n=5), and subsegmental (n=1) filling defects, while two patients were negative at the initial CTPA from average weighted images but positive at dual energy CT perfusion images. Eight patients had lobar (n=3), segmental (n=5) perfusion defects while 3 patients had no typical perfusion defects at dual energy CT perfusion images. Automatic and manual measurements showed the CT enhancement value of embolic regions measured with automatic method [(37.8±15.6) HU vs. (49.5±14.1) HU, t=-2.663, P=0.014] and CT enhancement value measured with annual method [(19.1±11.2) HU vs. (49.6±12.7) HU, t=-8.841, P<0.001] were lower than those of nonembolic regions. Conclusions: The incidence of pulmonary embolism was 21.2% in pediatric patients with nephritic syndrome in this study. Dual energy CTPA can show the perfusion defects resulting from pulmonary embolism, having a potential to improve the detection of pulmonary embolism in pediatric population. (authors)

  9. IRRITABLE BOWEL SYNDROME: Relationships with Abuse in Childhood

    OpenAIRE

    Sansone, Randy A.; Sansone, Lori A.

    2015-01-01

    Irritable bowel syndrome is allegedly the most common gastrointestinal diagnosis in the United States. The etiology of this syndrome appears to entail the interaction of both genes and the environment. One potential environmental contributory factor to irritable bowel syndrome is abuse in childhood. Of the various forms of abuses previously examined, sexual abuse in childhood appears to be the most patent contributor. However, both emotional and physical abuses may also contribute to irritabl...

  10. A case of rheumatic fever with acute post-streptococcal glomerulonephritis and nephrotic syndrome caused by a cutaneous infection with beta-hemolytic streptococci

    Directory of Open Access Journals (Sweden)

    Carsten Sauer Mikkelsen

    2010-01-01

    Full Text Available A middle-aged patient of Greenlandic origin was referred for skin infection of the leg. An initial minor trauma of the skin of the distal right lower extremity was complicated by bullous erysipelas which cultured positive for group A β-hemolytic streptococci (GABHS. The clinical condition deteriorated and necrotizing fasciitis developed despite relevant surgical and antibiotic treatment. Approximately 3 weeks later, the patient developed arthralgia, impaired renal function with azotemia, hypertension and severe nephrotic syndrome with periorbital and peripheral edema. A kidney biopsy demonstrated endocapillary glomerulonephritis. Concomitantly, carditis with chest pain, moderately reduced left ventricular ejection fraction and mitral regurgitation were noted. The patient had no signs of pharyngitis in the whole period. The patient thus contracted poststreptococ glomerulonephritis and furthermore she fulfilled the criteria of acute rheumatic fever following a GABHS skin infection. We suggest a possible relation between a virulent GABHS clone causing NF and ARF.

  11. Childhood Sexual Abuse and Psychosomatic Symptoms in Irritable Bowel Syndrome

    Science.gov (United States)

    Ross, Colin A.

    2005-01-01

    Irritable bowel syndrome is characterized by chronic gastrointestinal symptoms without a demonstrable physical cause. In a subgroup of patients, irritable bowel syndrome may be part of a cluster of psychosomatic symptoms related to childhood sexual abuse. To investigate this possibility, the Dissociative Disorders Interview Schedule (DDIS), the…

  12. Eficacia del tratamiento dietético en el síndrome nefrótico Effectiveness of dietetic treatment in nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    A. Calleja Fernández

    2009-12-01

    Full Text Available Presentamos el caso de un paciente diagnosticado de amiloidosis primaria y síndrome nefrótico que acude a la consulta de dietoterapia. En la consulta inicial se realizó una historia nutricional que incluyó una valoración antropométrica completa, composición corporal, bioquímica completa y análisis de la ingesta. El paciente presentó un exceso de agua corporal, proteinuria, niveles disminuidos de proteínas totales, albúmina, prealbúmina y colesterol HDL y concentraciones elevadas de colesterol total, de LDL y de triglicéridos. El consumo de proteínas y sodio era superior a la recomendación. Se elaboró una dieta personalizada. Tras seis meses de dieta el paciente presentó una pérdida de peso a partir de agua, manteniendo el estado nutricional, una disminución de la proteinuria, manteniéndose la función renal y una mejora del perfil lipídico. El tratamiento dietético del síndrome nefrótico es eficaz para disminuir la proteinuria recuperar y mejorar el perfil lipídico y prevenir la desnutrición del paciente.We present the case of a male patient suffering from a primary amyloidosis and a nephrotic syndrome who came to dietotherapy clinic. In the first visit we made a nutritional record including an anthropometric evaluation, body composition, biochemistry, and food intake. The patient had an excess of body water, proteinuria, low plasma protein, albumin, prealbumin and HDL cholesterol levels, and high concentrations of total cholesterol, LDL and triglycerides. The consumption of protein and sodium was higher than the recommendation. An individualized diet was made. Six months later, his weight and the excess of body water decreased, but the fat free mass remained unchanged. The levels of albumin and prealbumin increased, the proteinuria decreased. Total cholesterol, LDL and triglycerides decreased until normal levels. Dietetary treatment in nephrotic syndrome is effective to decrease proteinuria, improve cholesterol and

  13. 原发性肾病综合征与血小板活化因子水解酶的相关性分析%The Correlation Analysis of Primary Nephrotic Syndrome with Platelet Activating Factor Acetylhydrolase

    Institute of Scientific and Technical Information of China (English)

    田鲁; 胡亚琳; 操轩

    2015-01-01

    Objective:To observe the correlation of primary nephrotic syndrome ( primary nephritic syn-drome,PNS) with platelet activating factor acetylhydrolase (platelet activating factor cetylhydrolase ,PAF-AH).Method:48 patients with primary nephrotic syndrome treated in the hospital from Jan .2013 to Jun. 2013 were selected as the research object , all were initial treatment patients .They were divided into simple nephrotic syndrome group (STNS group with 31 cases) and nephritic type nephrotic syndrome group (NTNS group with 17 cases);and according to the difference in effects of hormone treatment all patients were divided sensitive nephrotic syndrome ( steroid-sensitive nephritic syndrome , SSNS ) group ( 19 cases ) , steroid re-sistant nephrotic syndrome (steroid-resistent nephritic syndrome, SRNS) group (15 cases), steroid depend-ent nephrotic syndrome group ( steroid-dependent nephritic syndrome , SDNS ) group ( 14 cases ) , then se-lected healthy persons with 30 cases as control group , 78 cases were determined the activity of PAF-AH, then compared differences between two groups .Result:PAF-AH activity in STNS group was(51.9 ±8.3)μmoL· min-1 · L-1 and was higher than those in NTNS group and healthy control group , all P<0.05; and NTNS activity in PAF-AH group were higher than that in healthy control group , all P<0.05.The activity of PAF-AH in SSNS group were higher than those in SRNS group , SDNS group and the control group , P<0.05 group, SDNS group, SRNS and PAF-AH activity were higher than the control group , all P<0.05.By the a-nalysis of perason , PAF-AH activity and primary nephrotic syndrome had obvious correlation analysis ,rSTNS=0.618;rNTNS=0.524; rSSNS=0.717; rSRNS=0.567.; rSDNS=0.327, P<0.05.Conclusion: Platelet activating factor acetylhydrolase activity of patients with nephrotic syndrome is significantly higher than the normal population, and the different types of PNS patients ’ PAF-AH activity are different.%目的:观察

  14. Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.

    Science.gov (United States)

    Ogino, Daisuke; Hashimoto, Taeko; Hattori, Motoshi; Sugawara, Noriko; Akioka, Yuko; Tamiya, Gen; Makino, Satoshi; Toyota, Kentaro; Mitsui, Tetsuo; Hayasaka, Kiyoshi

    2016-02-01

    Steroid-resistant nephrotic syndrome (SRNS) represents glomerular disease resulting from a number of different etiologies leading to focal segmental glomerulosclerosis (FSGS). Recently, many genes causing SRNS/FSGS have been identified. These genes encode the proteins associated with the formation and/or maintenance of glomerular filtration barrier. Next-generation sequencing is used to analyze large numbers of genes at lower costs. To identify the genetic background of Japanese patients, we studied 26 disease-causing genes using whole-exome sequencing analysis in 24 patients with SRNS and/or FSGS from 22 different Japanese families. We finally found eight causative gene mutations, four recessive and four dominant gene mutations, including three novel mutations, in six patients from five different families, and one novel predisposing mutation in two patients from two different families. Causative gene mutations have only been identified in ~20% of families and further analysis is necessary to identify the unknown disease-causing gene. Identification of the disease-causing gene would support clinical practices, including the diagnosis, understanding of pathogenesis and treatment. PMID:26467726

  15. Severe childhood malaria syndromes defined by plasma proteome profiles.

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    Florence Burté

    Full Text Available BACKGROUND: Cerebral malaria (CM and severe malarial anemia (SMA are the most serious life-threatening clinical syndromes of Plasmodium falciparum infection in childhood. Therefore it is important to understand the pathology underlying the development of CM and SMA, as opposed to uncomplicated malaria (UM. Different host responses to infection are likely to be reflected in plasma proteome-patterns that associate with clinical status and therefore provide indicators of the pathogenesis of these syndromes. METHODS AND FINDINGS: Plasma and comprehensive clinical data for discovery and validation cohorts were obtained as part of a prospective case-control study of severe childhood malaria at the main tertiary hospital of the city of Ibadan, an urban and densely populated holoendemic malaria area in Nigeria. A total of 946 children participated in this study. Plasma was subjected to high-throughput proteomic profiling. Statistical pattern-recognition methods were used to find proteome-patterns that defined disease groups. Plasma proteome-patterns accurately distinguished children with CM and with SMA from those with UM, and from healthy or severely ill malaria-negative children. CONCLUSIONS: We report that an accurate definition of the major childhood malaria syndromes can be achieved using plasma proteome-patterns. Our proteomic data can be exploited to understand the pathogenesis of the different childhood severe malaria syndromes.

  16. 环磷酰胺冲击疗法联合激素在肾病综合征治疗中的价值分析%Value Analysis of Cyclophosphamide Pulse Therapy Combined With Hormone Treatment of Nephrotic Syndrome

    Institute of Scientific and Technical Information of China (English)

    龙京花

    2015-01-01

    目的:分析环磷酰胺冲击疗法联合激素在肾病综合征治疗中的价值。方法将肾病综合征患者68例随机分为观察组与对照组,观察组给予环磷酰胺冲击疗法联合激素治疗,对照组给予常规激素治疗。结果观察组总缓解率高于对照组,有统计学意义(P <0.05);不良反应发生率低于对照组,有统计学意义(P <0.01)。结论环磷酰胺冲击疗法联合激素在肾病综合征治疗中的价值较高。%Objective To analyze cyclophosphamide pulse therapy combined with hormone therapy in nephrotic syndrome value. Methods 68 cases of nephrotic syndrome were randomly divided into observation group and control group. The observation group was treated with cyclophosphamide pulse therapy combined with hormone therapy, and the control group was treated with routine hormone therapy. Results The overall response rate was higher, with statistical significance (P<0.05), incidence of adverse events was significantly lower than the control group, there was statistically significant (P<0.01). Conclusion Cyclophosphamide pulse therapy combined with hormone higher value in the treatment of nephrotic syndrome.

  17. Childhood Nutrition in Predicting Metabolic Syndrome in Adults

    OpenAIRE

    Jääskeläinen, Paula; Magnussen, Costan G.; Pahkala, Katja; Mikkilä, Vera; Kähönen, Mika; Sabin, Matthew A.; Fogelholm, Mikael; Hutri-Kähönen, Nina; Taittonen, Leena; Telama, Risto; Laitinen, Tomi; Jokinen, Eero; Lehtimäki, Terho; Viikari, Jorma S. A.; Raitakari, Olli T.

    2012-01-01

    OBJECTIVE Our aim was to study the associations of childhood lifestyle factors (the frequency of consumption of vegetables, fruit, fish, and meat, butter use on bread, and physical activity) with the metabolic syndrome (MetS) in adulthood. RESEARCH DESIGN AND METHODS The study cohort consisted of 2,128 individuals, 3–18 years of age at the baseline, with a follow-up time of 27 years. We used the average of lifestyle factor measurements taken in 1980, 1983, and 1986 in the analyses. Childhood ...

  18. Underlying molecular and cellular mechanisms in childhood irritable bowel syndrome.

    Science.gov (United States)

    Chumpitazi, Bruno P; Shulman, Robert J

    2016-12-01

    Irritable bowel syndrome (IBS) affects a large number of children throughout the world. The symptom expression of IBS is heterogeneous, and several factors which may be interrelated within the IBS biopsychosocial model play a role. These factors include visceral hyperalgesia, intestinal permeability, gut microbiota, psychosocial distress, gut inflammation, bile acids, food intolerance, colonic bacterial fermentation, and genetics. The molecular and cellular mechanisms of these factors are being actively investigated. In this mini-review, we present updates of these mechanisms and, where possible, relate the findings to childhood IBS. Mechanistic elucidation may lead to the identification of biomarkers as well as personalized childhood IBS therapies. PMID:26883355

  19. Hipotiroidismo, miocardiopatía dilatada y síndrome nefrótico durante el embarazo Hypothyroidism, dilated cardiomyopathy and nephrotic syndrome during pregnancy

    Directory of Open Access Journals (Sweden)

    Ariel K. Saad

    2011-02-01

    Full Text Available El hipotiroidismo en el embarazo es infrecuente, pero cuando ocurre suele asociarse con complicaciones maternas y fetales. Se presenta el caso de una mujer joven sin antecedentes de enfermedad cardiovascular que consulta por ortopnea, dolor torácico y edema de miembros inferiores. Los exámenes pusieron en evidencia la existencia de insuficiencia cardíaca, hipotiroidismo, síndrome nefrótico e insuficiencia renal. El eco-Doppler mostró dilatación de las cuatro cavidades cardíacas con deterioro grave de la función sistólica. El tratamiento con levotiroxina por vía intravenosa mejoró el cuadro clínico y los parámetros de laboratorio. Se analizan los efectos de la hormona tiroidea sobre el aparato cardiovascular y se comentan los mecanismos fisiopatológicos de la insuficiencia cardíaca en el embarazo.Hypothyroidism during pregnancy is infrequent, but its presence is associated with maternal and fetal complications. We present the case of a young pregnant woman with no previous history of cardiovascular disease, who consulted for orthopnea, chest pain and edema in both legs. Laboratory tests demonstrated a hypothyroid condition and a nephrotic syndrome with renal failure. The echo-Doppler exam showed a four chamber dilatation with systolic dysfunction. Treatment with intravenous levothyroxine improved her medical condition. We analyze the effects of thyroid hormone on the heart and vascular system and discuss the pathophysiologic mechanisms of heart failure during pregnancy.

  20. Urinary IgG and α2-Macroglobulin Are Powerful Predictors of Outcome and Responsiveness to Steroids and Cyclophosphamide in Idiopathic Focal Segmental Glomerulosclerosis with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Claudio Bazzi

    2013-01-01

    Full Text Available Objective. To assess whether high-molecular-weight proteins excretion predicts outcome and therapy-responsiveness in patients with FSGS and nephrotic syndrome. Research Design and Methods. Thirty-eight patients measured at biopsy fractional excretion of IgG (FEIgG and urinary α2-macroglobulin/creatinine ratio (α2m/C. Low and high risk groups were defined by cutoffs assessed by ROC analysis. In all patients first-line therapy was with steroids alone or in combination with cyclophosphamide. Results. α2m/C and FEIgG were correlated with segmental sclerosis (r=0.546; r=0.522. Twenty-three patients (61% entered Remission and 9 (24% progressed to ESRD. Comparing low and high risk groups, by univariate analysis remission was predicted by FEIgG (77% versus 25%, P=0.016 and α2m/C (81% versus 17%, P=0.007 and ESRD at best by FEIgG (0% versus 75%, P<0.0001 and α2m/C (4% versus 67%, P<0.0001. By multivariate analysis FEIgG was the only independent predictor of remission and α2m/C the most powerful predictor of ESRD. Low and high risk groups of FEIgG and α2m/C in combination had very high predictive value of sustained remission and ESRD in response to therapy. Conclusions. FEIgG and α2m/C are powerful predictors of outcome and responsiveness to steroids and cyclophosphamide; their predictive value, if validated in prospective studies, may be useful in clinical practice suggesting first-line alternative treatments in high risk patients.

  1. Steroid-resistant idiopathic nephrotic syndrome in children: long-term follow-up and risk factors for end-stage renal disease

    Directory of Open Access Journals (Sweden)

    Alberto Zagury

    2013-09-01

    Full Text Available INTRODUTION: Steroid resistant idiopathic nephrotic syndrome (SRINS in children is one of the leading causes of progression to chronic kidney disease stage V (CKD V/end stage renal disease (ESRD. OBJECTIVE: The aim of this retrospective study is to evaluate the efficacy of immunosuppressive drugs (IS and to identify risk factors for progression to ESRD in this population. METHODS: Clinical and biochemical variables at presentation, early or late steroid resistance, histological pattern and response to cyclosporine A (CsA and cyclophosfamide (CP were reviewed in 136 children with SRINS. The analyzed outcome was the progression to ESRD. Univariate as well as multivariate Cox-regression analysis were performed. RESULTS: Median age at onset was 5.54 years (0.67-17.22 and median follow up time was 6.1 years (0.25-30.83. Early steroid-resistance was observed in 114 patients and late resistance in 22. Resistance to CP and CsA was 62.9% and 35% respectively. At last follow-up 57 patients reached ESRD. The renal survival rate was 71.5%, 58.4%, 55.3%, 35.6% and 28.5% at 5, 10, 15, 20 and 25 years respectively. Univariate analysis demonstrated that older age at onset, early steroid-resistance, hematuria, hypertension, focal segmental glomerulosclerosis (FSGS, and resistance to IS were risk factors for ESRD. The Cox proportional-hazards regression identified CsAresistance and FSGS as the only predictors for ESRD. CONCLUSION: Our findings showed that CsA-resistance and FSGS were risk factors for ESRD.

  2. The metabolic syndrome and body composition in childhood cancer survivors

    Directory of Open Access Journals (Sweden)

    Jae Hoon Chung

    2011-06-01

    Full Text Available Purpose : Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea. Methods : We performed a retrospective review of medical records of 98 childhood cancer survivors who were diagnosed and completed anticancer treatment at Samsung Medical Center, Seoul, Korea between Jan. 1996 and Dec. 2007. Parameters of metabolic syndrome were evaluated between Jan. 2008 and Dec. 2009. Clinical and biochemical findings including body fat percentage were analyzed. Results : A total of 19 (19.4% patients had the metabolic syndrome. The median body fat percentage was 31.5%. The body mass index and waist circumference were positively correlated with the cranial irradiation dose (r=0.38, P&lt;0.001 and r=0.44, P&lt;0.00, respectively. Sixty-one (62.2% patients had at least one abnormal lipid value. The triglyceride showed significant positive correlation with the body fat percentage (r=0.26, P=0.03. The high density lipoprotein cholesterol showed significant negative correlation with the percent body fat (r=- 0.26, P=0.03. Conclusion : Childhood cancer survivors should have thorough metabolic evaluation including measurement of body fat percentage even if they are not obese. A better understanding of the determinants of the metabolic syndrome during adolescence might provide preventive interventions for improving health outcomes in adulthood.

  3. Proportionate increase of fibrinogen and albumin synthesis in nephrotic patients : Measurements with stable isotopes

    NARCIS (Netherlands)

    de Sain-van der Velden, MGM; Kaysen, GA; de Meer, K; Stellaard, F; Voorbij, HAM; Reijngoud, DJ; Rabelink, TJ; Koomans, HA

    1998-01-01

    Hyperfibrinogenemia is a common feature of the nephrotic syndrome, and contributes to increased tendency for thrombosis and atherosclerosis. Its genesis is not certain, but the increase in liver fibrinogen mRNA in nephrotic rats indicates increased synthesis. Data in humans are scarce. We presently

  4. Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome

    OpenAIRE

    Kishan Prasad Hosapatna Laxminarayana; Sunil Kumar Yeshvanth; Shetty, Jayaprakash K; Harish S Permi; Chandrika Rao

    2011-01-01

    Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She...

  5. Childhood obesity and the metabolic syndrome in developing countries.

    Science.gov (United States)

    Gupta, Nidhi; Shah, Priyali; Nayyar, Sugandha; Misra, Anoop

    2013-03-01

    Rapidly changing dietary practices accompanied by an increasingly sedentary lifestyle predispose to nutrition-related non-communicable diseases, including childhood obesity. Over the last 5 y, reports from several developing countries indicate prevalence rates of obesity (inclusive of overweight) >15 % in children and adolescents aged 5-19 y; Mexico 41.8 %, Brazil 22.1 %, India 22.0 % and Argentina 19.3 %. Moreover, secular trends also indicate an alarming increase in obesity in developing countries; in Brazil from 4.1 % to 13.9 % between 1974 and 1997; in China from 6.4 % to 7.7 % between 1991 and 1997; and in India from 4.9 % to 6.6 % between 2003-04 to 2005-06. Other contributory factors to childhood obesity include: high socio-economic status, residence in metropolitan cities and female gender. Childhood obesity tracks into adulthood, thus increasing the risk for conditions like the metabolic syndrome, type 2 diabetes mellitus (T2DM), polycystic ovarian syndrome, hypertension, dyslipidemia and coronary artery disease later in life. Interestingly, prevalence of the metabolic syndrome was 35.2 % among overweight Chinese adolescents. Presence of central obesity (high waist-to-hip circumference ratio) along with hypertriglyceridemia and family history of T2DM increase the odds of T2DM by 112.1 in young Asian Indians (educational programs for children should be immediately initiated in developing countries, following the successful model program in India (project 'MARG'). PMID:23334584

  6. Practitioner Review: Chronic Fatigue Syndrome in Childhood

    Science.gov (United States)

    Garralda, M. Elena; Chalder, Trudie

    2005-01-01

    RBackground: Chronic fatigue syndrome (CFS) is being increasingly recognized in children and adolescents. Yet comparatively little attention has been given in the literature to management. Methods: Description of the main features of the disorder, precipitating and maintaining factors and diagnostic assessment. Outline of different views on the…

  7. The Practice of Clinical Pharmacists'Participation in the Treatment of One Case with Nephrotic Syndrome%临床药师参与1例肾病综合征患者的治疗实践

    Institute of Scientific and Technical Information of China (English)

    马文明

    2015-01-01

    OBJECTIVE:To explore the effect of the clinic participation of pharmacists in the treatment of the patient with nephrotic syndrome .METHODS:Through participating in the treatment of a certain patient with nephrotic syndrome , pharmacists assisted the doctor to adjust the drug use program and analyze the rationality of the application of diuretics .RESULTS:The suggestions provided by clinical pharmacists were accepted by doctors , and the patient got better and discharged from the hospital .CONCLUSIONS:Clinical participation of pharmacists in the establishment of clinic treatment program can effectively solve the clinical problems and promoted rational drug use .%目的:探讨临床药师在临床药物治疗中所发挥的作用。方法:临床药师参与1例肾内科肾病综合征患者的临床治疗过程,参与药物治疗方案的调整,分析利尿剂应用的合理性。结果:临床药师的建议被医师采纳,患者病情好转出院。结论:临床药师参与临床药物治疗方案的制订,可有效解决临床问题,有利于促进合理用药。

  8. An Asymptomatic Young Female with Chronic Hepatitis-B Presenting as Minimal Change Glomerulonephritis with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    A.K.Gupta ,A.Rohatgi, V.Pardasani, S.K.Sharma, A.k. Dinda, P.Shakhuja

    2003-10-01

    Full Text Available Hepatitis B is a worldwide problem with high prevalence rate in our country. Kidney involvement iscommon in chronic hepatitis B patients. The usual pattern is membranous glomerulonephritis inchildren and Type I membranoproliferative glomerulonephritis in adults. A previously asymptomaticyoung female suffering from chronic hepatitis B with portal hypertension presented with nephroticsyndrome. Kidney biopsy revealed minimal change glomerulonephritis which is rarely seen inassociation with hepatitis B. Patient recovered following administration of oral steroids. Wereconunend screening ofall patients ofnephrotic syndrome for chronic hepatitis B with viral markersin addition to HBsAg.

  9. Complex karyotype newly defined: The strongest prognostic factor in advanced childhood myelodysplastic syndrome

    NARCIS (Netherlands)

    G. Göhring (Gudrun); K. Michalova (Kyra); H.B. Beverloo (Berna); D. Betts (David); J. Harbott (Jochen); O.A. Haas (Oskar); G. Kerndrup (Gitte); L. Sainati (Laura); E. Bergstraesser (Eva); H. Hasle (Henrik); J. Stary (Jan); M. Trebo (Monica); M.M. van den Heuvel-Eibrink (Marry); M. Zecca (Marco); E.R. van Wering (Elisabeth); A. Fischer (Alexandra); P. Noellke (Peter); B. Strahm (Brigitte); F. Locatelli (Franco); C.M. Niemeyer (Charlotte); B. Schlegelberger (Brigitte)

    2010-01-01

    textabstractTo identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexit

  10. 家庭护理干预对肾病综合症儿童疗效及心理适应行为的影响%nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    骆成珠; 银青梅; 周月琼; 周琼花

    2014-01-01

    目的:探讨家庭护理干预对肾病综合症儿童疗效及心理适应行为的影响。方法对100名肾病综合症儿童随机分为家庭干预组和对照组,家庭干预组实施家庭护理干预后,比较两组儿童疗效和心理适应行为差异。结果家庭干预组儿童的疗效和心理适应行为和对照组的相比均有明显改善。结论家庭护理干预能降低肾病综合症儿童复发率,提高治疗疗效,并且能改善其心理适应行为。%Objective To investigate the impact of family nursing intervention on efficacy and psychological adaptive behavior of children with nephrotic syndrome.Methods 100 children with nephrotic syndrome were randomly divided into control group and family intervention group, the control group accepted routine nursing intervention and drug treatment, while the intervention accepted family nursing intervention and drug treatment, observing children's efficacy and psychological adaptation behavior difference.Results The efficacy and psychological adaptive behavior of children with family nursing intervention were advanced comparing to the control group children.Conclusions Family nursing intervention can effectively reduce relapse rates and improve the efficacy and their psychological adaptive behavior of children with nephritic syndrome.

  11. 护理干预在小儿肾病综合征中的应用效果观察%Effect of nursing intervention on nephrotic syndrome in children

    Institute of Scientific and Technical Information of China (English)

    刘春妍

    2011-01-01

    Objective To investigate the effect of nursing intervention on nephrotic syndrome in children. Methods 64 cases with nephrotic syndrome were randomly divided into the study group and the control group, with 32 cases in each group. Non-discriminatory treatment of two groups, both were given diet, hormone therapy, control high blood pressure, blood lipids and adjust to correct water and electrolyte disorders treatment. Patients in the control group received routine care, while those in the study group were given nursing interventions during hospitalization, in cluding psychological care, guidance of diet and medication, health education, medication guidance. Compliance be havior of children, the rates of cure and recurrence were observed. Results The compliance behavior and clinical ef ficacy of children in the study group were significantly better than that in the control group (P<0.01, P<0.05); The re currence rate in the study group was lower than that in the control group (P<0.05). Conclusion Intervention can im prove care of children with nephrotic syndrome in compliance behavior and reduce relapse.%目的 探讨护理干预在小儿肾病综合征中的应用效果.方法 将我院收治的肾病综合征患儿64例随机分为研究组和对照组,每组32例.对照组患儿给予常规护理,研究组患儿在常规护理的基础上给予护理干预,包括住院期间的心理护理,指导饮食及用药;出院前的健康教育,用药指导;出院后的定期随访等方法.观察两组患儿遵医行为、治愈及复发情况.结果 ①研究组患儿遵医行为较对照组显著提高(P<0.01);临床疗效较对照组明显改善(P<0.05).②出院后随访1年,研究组患儿复发率较对照组低(P<0.05).结论 护理干预可以提高小儿肾病综合征的遵医行为,提高治疗效果,降低复发率.

  12. Unusual cause of childhood anemia: Imerslund Grasbeck syndrome.

    Science.gov (United States)

    Laxminarayana, Kishan Prasad Hosapatna; Yeshvanth, Sunil Kumar; Shetty, Jayaprakash K; Permi, Harish S; Rao, Chandrika

    2011-07-01

    Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin) and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria. PMID:22219566

  13. Unusual cause of childhood anemia: Imerslund grasbeck syndrome

    Directory of Open Access Journals (Sweden)

    Kishan Prasad Hosapatna Laxminarayana

    2011-01-01

    Full Text Available Imerslund Grasbeck syndrome (IGS is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause, finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria.

  14. Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment.

    Science.gov (United States)

    Blaes, Franz; Dharmalingam, Backialakshmi

    2016-06-01

    Opsoclonus-myoclonus syndrome (OMS) is a rare and primarily immune-mediated disease in children and adults. The main symptoms include opsoclonus, myoclonus and ataxia. In children, the symptoms also include irritability, and, over a long-term course, learning and behavioural disturbances. OMS can be idiopathic, parainfectious or occur as a paraneoplastic (tumour-associated) syndrome. Paraneoplastic OMS in children is almost exclusively associated with neuroblastoma, whereas in adults, small cell lung cancer and breast cancer are the main underlying tumours. An autoimmune pathophysiology is suspected because childhood OMS patients have functionally active autoantibodies, proinflammatory changes in the cytokine network and immunotherapy responses. Children appear to respond regularly to immunosuppressive treatment. However, although the neurological symptoms show a good response, most children continue to show neuropsychological disturbances. PMID:27095464

  15. 肾病综合征并发深静脉血栓和(或)肺栓塞临床分析%Clinical analysis of deep venous thrombosis and (or) pulmonary embolism in nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    王亚芬; 孙东; 柳彩侠; 冯锦红; 崔爱东

    2011-01-01

    Objective To explore the related risk factors, diagnosis and treatment of nephrotic syndrome (NS)complicated with deep venous thrombosis (DVT) and (or) pulmonary embolism (PE). Methods A retrospective study was conducted on the clinical data of 10 cases of nephrotic syndrome complicated with DVT and (or) PE, which was compared with 50 synchronous cases of nephrotic syndrome with no thrombosis as to age (AGE) , plasma albumin ( ALB ), 24 - hour urine protein ( 24 - UP), total cholesterol ( CHOL), triglyceride ( TG), platelet (PLT) and fibrinogen (FIB). Results In the thrombosis group, 6 patients underwent renal biopsy , 3 of whom had membranous nephropathy. There were significant differences in the indicators such as AGE , ALB, 24 - UP, FIB between the thrombosis group and the non -thrombosis group (P< 0.05 ); the differences in CHOL, TG and PLT had no statistical significance (P>0.05 ). The thrombi disappeared in the thrombosis group following a series of therapies including anticoagulation , thrombolysis, implantation of inferior vena cava filter (IVCF) , etc. Conclusion AGE, ALB, 24 - UP and FIB play very important roles in the formation off DVT and (or) PE in NS. Membranous nephropathy is the most common pathological type in NS with thromboembolism. In cases of NS complicated with DVT and (or) PE, anticoagulation, thrombolysis or interventional therapy should be conducted as required. Implantation of IVCF is an effective method to prevent DVT leading to PE .%目的 探讨肾病综合征(nephrotic syndrome,NS)并发深静脉血栓形成 (DVT)和(或)肺栓塞(PE)的相关危险因素及诊治体会.方法 对10例确诊的NS并发DVT和(或)PE患者(血栓组)的临床资料进行回顾性分析,并与同期50例NS无血栓患者(无血栓组)的年龄(AGE)、血浆白蛋白(ALB)、24小时尿蛋白定量(24-UP)、总胆固醇(CHOL)、三酰甘油(TG)、血小板(PLT)、纤维蛋白原(FIB)等指标进行比较.结果 血栓组10例,肾活检6

  16. Genetic Aspects of Nephrotic Syndrome

    DEFF Research Database (Denmark)

    Joshi, Shivani

    a modifier. Nonetheless, such a combination might have variable penetrance and hence different age of onset. Thus, genetic testing in SRNS is important as it might give clues to the cause and save exposure of immunosuppressive medications in future patients with same genotype. Families comprising...... steroid dependence or become frequent relapsers. Repeated courses of corticosteroid treatment often cause significant associated morbidity. Familial occurrence of SSNS is rare and suggests a potential genetic origin. However, very little data on molecular genetics of familial SSNS is available in...... literature and no causal genes have yet been identified. Genetic aspects of NS bear important implications in therapeutic decisions and genetic counselling in SRNS patients and family members. During the present Ph.D. project we have studied the influence of genetic factors in patients with SRNS and familial...

  17. Hyperinsulinemia and waist circumference in childhood metabolic syndrome

    International Nuclear Information System (INIS)

    To determine the characteristics of obese children presenting at a tertiary care hospital and the frequency of metabolic syndrome (MS) in them using two paediatric definitions. A total of 262 obese children aged 4-16 years, with BMI greater than 95 percentile were included. Children having obesity due to syndromes, medications causing weight gain, chronic illness and developmental disability were excluded. Blood pressure, waist circumference, fasting triglycerides, HDL, insulin and glucose levels were obtained. Obesity was defined as BMI > 95 percentile for age and gender according to the UK growth reference charts. The prevalence of metabolic syndrome was estimated using to the De Ferrantis and Lambert definitions. The frequency of MS varied between 16% and 52% depending on whether insulin levels were included in the definition. There was a significant positive correlation(r) when the metabolic parameters were correlated with waist circumference and insulin levels, except HDL which was negatively correlated. All the metabolic parameters like waist circumference, triglycerides, high density lipoprotein cholesterol and systolic blood pressure increased considerably across the insulin quartile (p < 0.05). The most noteworthy anthropometric and metabolic abnormality were the waist circumference (46.5%) and insulin levels (58%) respectively. There was a marked difference in the frequency of metabolic syndrome according to the definition used. The waist circumference and hyperinsulinemia are significant correlates of MS in obese children. There is a need for establishing normal insulin ranges according to age, gender and pubertal status. The clinical examination and investigations ought to include waist circumference and insulin levels together as a part of the definition of MS, for early detection and intervention of childhood obesity. (author)

  18. Epidemiological characteristics of childhood migraine syndrome in Serbia

    Institute of Scientific and Technical Information of China (English)

    Marija Kne(z)evi(c)-Pogan(c)ev; Neboj(s)a Jovi(c); Vesna Iveti(c); Danka Filipovi(c); Dragan Katani(c)

    2011-01-01

    This study investigated childhood migraine, examining the clinical characteristics of different childhood migraine types, predisposing factors, and possible medical treatments in a sample of children in Serbia. This was the first epidemiological study in Serbia using the operational diagnostic criteria of the International Headache Society. The present study examined 30 636 children between 1988 and 2006, including 15 434 (50.38%) males and 15 202 (49.62%) females, in nine towns in Vojvodina, a northern province in Serbia. Migraine was reported in 2 644 (8.63%) children aged 3 to 7 years, consisting of 1 189 (8.0%) males and 1 455 (9.6%) females. Migraine with aura accounted for 25.55%, migraine without aura for 67.21% and other migraine syndromes for 7.23% of reported migraine sufferers. The mean age of first migraine attack across groups was 5 years and 1.8 months. Migraine with aura was associated with an earlier onset than migraine without aura.Migraine was more frequent among younger groups of children who were breastfed for a shorter period of time. Child healthcare in Vojvodina has a high level of specialization, with more than half of the children reporting migraine diagnosed and treated by neuropediatricians. Socioeconomic status,duration of breastfeeding, birth order, and age of entering full-day nursery care were found to be important factors for childhood migraine. These findings suggest that healthcare providers should educate parents about these predisposing factors, so they can be identified and avoided early.

  19. Clinical Research on Treatment of Hyperkinetic Syndrome of Childhood by Electroacupuncture plus Acupoint Application

    Institute of Scientific and Technical Information of China (English)

    WU Yao-chi; KUAI Le

    2003-01-01

    Objective To observe the clinical therapeu tic effect of hyperkinetic syndrome of childhood treated by electroacupuncture plus acupoint application. Method Sixty-five cases with hyperkinetic syndrome of childhood were treated by electroacupuncture plus acupoint application (electroacupuncture group); 53 cases were treated by acupuncture (acupuncture group) and 53 cases were treated by Ritalin (west drug group). The above three groups were compared with each other in therapeutic effect. Results The effective rate of treating hyperkinetic syndrome of childhood by electroacupuncture plus acupoint application was 87.7%; the effective rate in west drug group was 86.8% and in acupuncture group was 77.4%. A comparison among the three groups showed there was no significant difference in clinical ther apeutic effect ( P > 0.05 ). Conclusion Electroacupuncture plus acupoint application was an effective therapy of hyperkinetic syndrome of childhood.

  20. Childhood sexual trauma in women with interstitial cystitis/bladder pain syndrome

    DEFF Research Database (Denmark)

    Nickel, J Curtis; Tripp, Dean A; Pontari, Michel;

    2011-01-01

    The impact of early lifetime trauma on symptom severity and quality of life of patients with interstitial cystitis/bladder pain syndrome (IC/BPS) has not been fully elucidated. We wanted to determine and compare the prevalence and impact of childhood traumatic events, with an emphasis on childhood...

  1. Síndrome nefrótica córtico-sensível e diabetes mellitus tipo 1 de início simultâneo Simultaneous onset of steroid-sensitive nephrotic syndrome and type 1 diabetes

    Directory of Open Access Journals (Sweden)

    Eduardo A. Rego Filho

    2003-11-01

    with steroid-sensitive nephrotic syndrome coexisting with type-1 diabetes mellitus. The interest to this clinical case is due to the unusual association of these diseases, the clinical symptoms and laboratory tests used to confirm diagnosis and the difficulties on corticotherapy. DESCRIPTION: Nephrotic syndrome was diagnosed in a boy (age 3 years and 11 months with generalized edema. Marked weight loss (23 to 16 kg, polyuria, polydipsia and weakness were observed after three weeks of treatment with prednisone 2 mg/kg/day. Diabetic ketoacidosis was confirmed by laboratory tests: hyperglycemia (glucose 657 mg/dl, glycosuria without proteinuria, acidosis and ketonuria. Therapy with insulin and prednisone was started. He was then maintained on a daily dose of NPH insulin. At age 4 years and 1 month a new episode of ketoacidosis without proteinuria occurred in association with a viral infection of the upper airways. At age 4 years and 4 months nephrotic syndrome relapsed, but the child responded well to steroid therapy. There was another relapse three months later, when prednisone treatment was interrupted. This led to the introduction of cyclophosphamide, with good results. Since then, the patient (now 5 years and 6 months old has been taking insulin daily and nephrotic syndrome has not relapsed. Plasma levels of C3 and C4 and renal function are normal. Hematuria is occasionally present. Anti-GAD antibodies (glutamic decarboxilase are normal and anti-islet cell antibodies are positive. HLA antigens: A2; B44; B52; DR4; DR8; DR53. COMMENTS: The simultaneous occurrence of steroid-sensitive nephrotic syndrome and type-1 diabetes mellitus is rare. The literature data, the familiar pattern and studies on HLA antigens are discussed.

  2. CHILDHOOD GUILLIAN-BARRE SYNDROME IN THE IRAN’S EAST AZERBAIJAN PROVINCE: 2001-2005

    Directory of Open Access Journals (Sweden)

    M. Barzegar

    2009-01-01

    Full Text Available  ObjectiveThis study aims at determining the epidemiologic, presenting symptoms, clinical course and electrophysiologic features of childhood Guillain-Barre Syndrome (GBS in the East Azarbaijan province over a period of five years.Materials & Methods All the patients, agedResultsOne hundred and twelve subjects were enrolled during this period. The average annual incidence rate was 2.21 per 100000 population of children agedConclusion The axonal type of GBS is a relatively common form of childhood GBS occurring in East Azerbaijan.Keywords: Guillian-Barre syndrome , Childhood, Epidemiology, Electrodiagnosis, Clinical features, East Azarbaijan

  3. Nephrotic syndrome of intracranial venous sinus thrombosis nursing care%肾病综合征并发颅内静脉窦血栓的护理效果观察

    Institute of Scientific and Technical Information of China (English)

    徐敏; 张青; 夏正坤; 王慧; 贾丽丽; 吴婷婷; 胡蝶; 杨红萍; 杨波; 滕彦

    2011-01-01

    目的 探讨应用尿激酶与低分子肝素等联合治疗肾病综合征患儿并发颅内静脉窦血栓后的护理效果.方法 采用尿激酶与低分子肝素等联合治疗,观察血压、神志、尿量、肢体色泽、温度及有无皮下出血情况.结果 观察发现肾病综合者患儿在激素治疗的过程中易合并高凝状态,肾病综合征的高凝状态是静脉血栓形成的基础, 临床上一旦患儿血压升高并发头痛、头昏、嗜睡、呕吐等症状时,应尽早进行头颅CT或MRI检查以便了解有无头颅静脉血栓,并常规运用尿激酶与低分子肝素联合治疗.结论 早期应用尿激酶抗纤溶、低分子肝素抗凝及抗血小板凝聚药物综合治疗,其溶栓疗效较好.本文对儿童肾病综合征并发颅内静脉窦血栓的早期护理观察具有推广价值.%Objective To explore the effect of the application of urokinase and low molecular heparin in nephrotic syndrome children with the complication of intracranial venous thrombosis.Methods To apply urokinase and low molecular heparin unitedly, and observe blood pressure, consciousness, urine output, body color, temperature and the presence of subcutaneous bleeding. Resuits We observed that children with nephrotic syndrome easily have hypercoagulation, on which basis venous thrombosis forms. Once headache, dizziness, drowsiness, vomiting occur, head CI or MRI examination should be applied in order to know whether the intracranial vein thrombosis is complicated. Conclusion Early application of urokinase and low molecular heparin and anti-platelet coagulation drugs has good effect.

  4. The Relations between Enuresis in Childhood and Nocturnal Polyuria Syndrome in Adult Life

    OpenAIRE

    Ciftci, Halil; Savas, Murat; Altunkol, Adem; Öncel, Halil; Yeni, Ercan; Verit, Ayhan

    2012-01-01

    Purpose The aim of this study, to investigate whether there is any association between enuresis in childhood and nocturnal polyuria syndrome (NPS) in adult life. Methods The study consisted of thirty five patients with nocturnal polyuria, and thirty five healthy people without nocturnal polyuria in adult life, were asked to assess their enuresis in childhood. Results There was a history of enuresis in childhood in 18 (51.42%) of 35 of men with nocturnal polyuria and in 4 (11.42%) of 35 withou...

  5. Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.

    Science.gov (United States)

    Perfetto, F; Stoppino, L P; Calì, A; Milillo, P; Grilli, G; Vinci, R; Macarini, L

    2012-03-01

    Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum. PMID:24028880

  6. [Observations of play and verbal behavior of boys with fragile X syndrome in early childhood].

    Science.gov (United States)

    Sarimski, K

    1999-08-01

    Reports on development and behaviour in boys with fragile-X syndrome support the idea of a characteristic behavioural phenotype in this special population. Preliminary results are presented for 10 boys with fragile-X syndrome in early childhood. Severe mental handicaps and communicative abnormalities are observed less frequently than was expected on the basis of results reported for school-age children or adults. Boys with fragile-X syndrome show goal-directed and cooperative play behaviours in a Montessori play session, but less persistence and organisation than children with normal development or a mental handicap of heterogeneous origin. Results confirmed these behavioural differences as characteristic aspects of a "behavioural phenotype" in children who already in early childhood have fragile-X syndrome. PMID:10478436

  7. 探讨尿N-乙酰-β-D-氨基葡萄糖苷酶检测对原发性肾病综合征的临床价值%Discusses the urine N-acetyl-β-D-amino grape glycosidase to test the application value of the primary nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    刘红; 伊力夏提; 岳华; 陆晨; 刘颖; 赵红娟

    2013-01-01

    Objectives To investigate the clinical value of urine NAG in Primary nephrotic syndrome patients.Methods 52 patients with primary nephrotic syndrome were enrolled who were in-patients,dated from December 2008 to May 2011,in patients before and after the use of hormone by colorimetric method to detect the urine NAG,and the detection results compare and statistical analysis.Results Primary nephrotic syndrome patients use hormone therapy,the detection of positive urine NAG for 9.62%,urinary protein qualitative results for (-) ~ +,a statistically significant difference(P < 0.05).Conclusions Urine NAG enzyme detect can as a primary nephrotic syndrome sensitive indexes,the curative judgment and delay the progress of kidney disease has an important clinical significance.%目的 探讨尿N-乙酰-β-D-氨基葡萄糖苷酶(N-acetyl-β-D-glucosa minidase,NAG)检测对原发性肾病综合征患者的临床价值.方法 选择2008年12月~2011年5月在新疆维吾尔自治区人民医院肾病科住院的原发性肾病综合征患者52例为病例组,对患者使用激素前、后采用对硝基苯酚(PNP)比色法检测尿NAG,并对检测结果进行比较及统计学分析.结果 原发性肾病综合征患者使用激素治疗后,检测尿NAG阳性率为9.62%,尿蛋白定性结果为(-)~+,差异具有统计学意义(P<0.05).结论 尿NAG酶检测可以作为原发性肾病综合征的敏感指标,对疗效判断及延缓肾脏疾病的进展具有重要的临床意义.

  8. Clinical experience for treating infantile nephrotic syndrome by asthenia in origin and asthenia in superficiality and sequenced differentiation of symptoms and signs%从本虚标实、序贯辨证论治小儿肾病综合征临床体会

    Institute of Scientific and Technical Information of China (English)

    张汶娟; 刘素云; 任献青

    2013-01-01

      全国名老中医丁樱教授、知名专家翟文生教授以及任献青博士在临床中积累了丰富的治疗小儿肾病的经验。本文对其进行了总结整理。%The national distinguished veteran TCM doctors DING Ying, the famous expert ZHAI Wen-sheng and Doctor REN Xian-qing have abundant experiences on treating infantile nephrotic syndrome. In this article, their experiences were summarized.

  9. Childhood Physical Abuse Is Associated with Incident Metabolic Syndrome in Mid-Life Women

    Science.gov (United States)

    Midei, Aimee J.; Matthews, Karen A.; Chang, Yue-Fang; Bromberger, Joyce T.

    2013-01-01

    Objective Previous research has suggested that childhood emotional abuse, physical abuse, and sexual abuse are associated with an increased risk for ischemic heart disease. Our objective was to examine whether childhood abuse predicted incident metabolic syndrome, a precursor to heart disease, in mid-life women. Methods Participants were 342 (114 Black, 228 White) women from the Pittsburgh site of the Study of Women’s Health Across the Nation (SWAN). SWAN included a baseline assessment of premenopausal or early perimenopausal women in midlife (mean age = 45.7), and women were evaluated for presence of the metabolic syndrome over 7 annual follow-up visits. Women were classified as having metabolic syndrome if they met 3 of the following criteria: waist circumference > 88 cm, triglycerides ≥ 150 mg/dl, HDL < 50 mg/dl, SBP ≥ 130 or DBP ≥ 85 mmHg or on blood pressure medication, and fasting glucose ≥ 110 mg/dl or diabetic. The Childhood Trauma Questionnaire is a standardized measure that retrospectively assesses three domains of abuse in childhood and adolescence: emotional, physical, and sexual abuse. Results Approximately 34% of the participants reported a history of abuse. Cox model survival analysis showed that physical abuse was associated with incident metabolic syndrome over the course of seven years (HR = 2.12, p = .02), adjusted for ethnicity, age at baseline, and time-dependent menopausal status. Sexual abuse and emotional abuse were unrelated to the metabolic syndrome. Conclusion This is the first study to show that a history of childhood abuse, specifically physical abuse, is related to the development of metabolic syndrome in mid-life women. PMID:22775234

  10. Childhood sexual trauma in women with interstitial cystitis/bladder pain syndrome

    DEFF Research Database (Denmark)

    Nickel, J Curtis; Tripp, Dean A; Pontari, Michel; Moldwin, Robert; Mayer, Robert; Carr, Lesley K; Doggweiler, Ragi; Yang, Claire C; Mishra, Nagendra; Nordling, Jorgen

    2011-01-01

    The impact of early lifetime trauma on symptom severity and quality of life of patients with interstitial cystitis/bladder pain syndrome (IC/BPS) has not been fully elucidated. We wanted to determine and compare the prevalence and impact of childhood traumatic events, with an emphasis on childhoo...... sexual abuse, on patient symptoms, quality of life and other biopsychosocial parameters....

  11. Unique metabolic characteristics of the major syndromes of severe childhood malnutrition

    Science.gov (United States)

    The major clinical syndromes of severe childhood malnutrition (SCM) are marasmus, kwashiorkor and marasmic-kwashiorkor. Whereas treatment of marasmus is straightforward and the associated mortality is low, kwashiorkor and marasmic-kwashiorkor are difficult to treat and have high morbidity and mortal...

  12. Differentiation of reversible ischemia from end-stage renal failure in nephrotic children with /sup 131/I-hippurate dynamic scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Hattner, R.S.; Maltz, H.E.; Holliday, M.A.

    1977-05-01

    In renal failure associated with the nephrotic syndrome, therapeutic strategy is highly dependent upon the cause of the renal failure. Dynamic hippurate scintigraphy was studied in five pediatric patients. Four had nephrotic syndrome, and of these, three had acute renal failure. The fifth patient had end-stage renal failure. Specific alteration in renal hippurate kinetics offers a noninvasive assessment of renal failure in this clinical setting.

  13. Adults with Asperger Syndrome: A Childhood Disorder Grows Up

    Science.gov (United States)

    Wilkinson, Lee A.

    2007-01-01

    Asperger syndrome is a chronic developmental disorder characterized by problems in social relatedness, empathic communication and understanding, and circumscribed interests. The inclusion of Asperger's Disorder (Asperger syndrome) in the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-IV; American Psychiatric Association, 1994), has…

  14. Molecular determinants of juvenile myelomonosytic leukemia and childhood myelodysplastic syndrome

    NARCIS (Netherlands)

    A.C.H. de Vries (Andrica)

    2012-01-01

    textabstractIn the general population the probability of developing cancer before the age of 18 years is around 1 in 400. In the Netherlands, approximately 600 new children each year are diagnosed with cancer (Figure 1). The most common types of childhood cancer are leukemias and the distribution of

  15. The prospective association between childhood cognitive ability and somatic symptoms and syndromes in adulthood : the 1958 British birth cohort

    NARCIS (Netherlands)

    Kingma, Eva M.; Rosmalen, Judith G. M.; White, Peter D.; Stansfeld, Stephen A.; Clark, Charlotte

    2013-01-01

    BACKGROUND: Cognitive ability is negatively associated with functional somatic symptoms (FSS) in childhood. Lower childhood cognitive ability might also predict FSS and functional somatic syndromes in adulthood. However, it is unknown whether this association would be modified by subjective and obje

  16. Childhood Sjögren syndrome presenting as acute brainstem encephalitis.

    Science.gov (United States)

    Matsui, Yoriko; Takenouchi, Toshiki; Narabayashi, Atsushi; Ohara, Kentaro; Nakahara, Tadaki; Takahashi, Takao

    2016-01-01

    Sjögren syndrome is an autoimmune disease characterized by dry mouth and eyes, known as sicca symptoms. The exact spectrum of neurological involvement, especially of the central nervous system, in childhood Sjögren syndrome has not been well defined. We report a girl who presented with acute febrile brainstem encephalitis. In retrospect, she had exhibited a preceding history of recurrent conjunctivitis and strong halitosis that could be considered as sicca symptoms. The histopathology results of a minor salivary biopsy, the presence of anti-SSA/Ro antibody, and keratoconjunctivitis confirmed the diagnosis of Sjögren syndrome. Commonly observed features in previously reported patients with childhood Sjögren syndrome and central nervous system complications have included fever at the time of neurologic presentation, cerebrospinal fluid pleocytosis, abnormal neuroimaging, and positivity for several specific antibodies. In children presenting with unknown acute febrile encephalopathy, Sjögren syndrome should be included in the differential diagnosis, especially when sicca symptoms are present. PMID:26006751

  17. CHILDHOOD GUILLIAN-BARRE SYNDROME IN THE IRAN’S EAST AZERBAIJAN PROVINCE: 2001-2005

    OpenAIRE

    M. Barzegar; S. Davari Farid; Dastgiri, S.; Malekian, A; V. Toopchizadeh

    2008-01-01

     ObjectiveThis study aims at determining the epidemiologic, presenting symptoms, clinical course and electrophysiologic features of childhood Guillain-Barre Syndrome (GBS) in the East Azarbaijan province over a period of five years.Materials & Methods All the patients, aged< 15 years, referred/admitted to Tabriz Children Hospital with GBS between January 2001 and December 2005 were investigated.ResultsOne hundred and twelve subjects were enrolled during this period. The average annual inciden...

  18. 肾病综合征的临床治疗预后分析%Analysis of prognosis of patients with nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    贺建军

    2014-01-01

    目的:探讨肾病综合征的临床中西药结合治疗预后。方法:肾病综合征成人患者60例根据随机抽签法分为观察组与对照组各30例,所有患者都采用激素治疗,在此基础上观察组加用自拟中药汤治疗,疗程为4周。结果:观察组与对照组总有效率分别为93.3%和73.3%,2组对比差异明显(P<0.05)。治疗后2组的SCr和BUN值都明显下降,与治疗前对比差异明显,同时上述值在治疗后的组间对比差异明显(P<0.05)。结论:肾病综合征在临床上采用中西药结合治疗能改善肾功能,提高预后疗效。%Objective:To discuss the prognosis of patients with nephritic syndrome treated by combination of Chinese traditional and western medicine .Methods:60 adults with nephritic syndrome were divided randomly into observation group and control group with 30 pa-tients each group.All the patients were treated by hormonotherapy .Observation group were treated by self -made Chinese medicine .The course was 4 weeks.Results:The total effective rates of observation group and control group were 93.3%and 73.3%respectively.The difference between two groups was obviously (P<0.05).The SCr and BUN in two groups were obviously reduced after treatment .The differences between before and after treatment in each group were obviously .The differences of SCr and BUN between two groups after treatment were obviously(P<0.05).Conclusion:Combination of Chinese traditional and western medicine for patients with nephritic syn -drome could improve the renal function and prognosis .

  19. Down Syndrome Temperament: The Stereotype at Middle Childhood and Adolescence.

    Science.gov (United States)

    Gunn, Pat; Cuskelly, Monica

    1991-01-01

    Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…

  20. Clinical significance of determining urinary podocalyxin level in children with primary nephrotic syndrome%检测原发性肾病综合征患儿尿足细胞标志蛋白的临床意义

    Institute of Scientific and Technical Information of China (English)

    刘涛; 张碧丽; 李莉

    2012-01-01

    Objective To study the clinical significance of urinary podoeyte marker protein podocalyxin (PCX) in the diagnosis of primary nephrotic syndrome (PNS) in children and the evaluation of disease severity. Methods PCX levels in the first morning urine were measured by turhidimetric immunoassay (TIA) in 175 children, including 53 children with acute PNS[36 cases of simple nephrotic syndrome (NS) and 17 cases of nephritic NS], 56 children with PNS in the remission stage (relapsed: 42 cases) and 66 healthy children ( control group). Twenty-four hour urinary protein was measured in the 53 children with acute PNS. The optimal operating points for the diagnosis of acute PNS and nephritic NS were determined using the receiver-operating characteristic curve ( ROC carve). Results Significant increasd levels of urinary PCX were found in children with acute PNS compared with those in the remission stage and the control group ( P < 0.01 ). A positive correlation was found between urinary PCX and 24 hour urinary protein in children with acute PNS (r = 0.39,P<0.01). In children with acute PNS, urinary PCX levels were significantly higher in the nephritic NS group than in the simple NS group (P < 0.05). In children in the remission stage, a significant increase in levels of urinary PCX was found in children who had relapsed compared with those who had not (P <0.05). The area under the ROC curve for the diagnosis of acute PNS and nephritic NS was 0.915 and 0.784 respectively. The optimal operating point for the diagnosis of acute PNS and nephritic NS was 7.97 and 10. 2S ng/mL respectively, with a sensitivity and specificity of 81.1% and 93.4% respectively for acut? PNS and of 94.1% and52.8% respectively for nephritic NS. Conclusions The quantitative detection of urinary PCX is useful in the evaluation of podoeyte dynamic changes. It is helpful in the diagnosis of acute PNS and in the differentiation of nephritic NS and simple NS.%目的 探讨检测尿液中足细胞标志蛋

  1. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome

    OpenAIRE

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral vie...

  2. The course of severe chronic fatigue syndrome in childhood.

    OpenAIRE

    Rangel, L.; Garralda, M E; Levin, M; Roberts, H.

    2000-01-01

    Little has been reported on prognostic indicators in children with chronic fatigue syndrome (CFS). We used interviews with children and parents, a mean of 45.5 months after illness onset, to follow up 25 cases of CFS referred to tertiary paediatric psychiatric clinics. At its worst, the illness had been markedly handicapping (prolonged bed-rest and school absence in two-thirds); mean time out of school was one academic year. Two-thirds, however, had recovered and resumed normal activities--me...

  3. [Guillain-Barre's syndrome in childhood (author's transl)].

    Science.gov (United States)

    Mulas, F; Martínez Bermejo, A; Pascual Castroviejo, I

    1976-01-01

    Seventeen cases of Guillain-Barré's syndrome aged between 14 month ans 7 years are studied from clinical, analytical and evolutives aspects. Neither sex nor season predominance occurs. Sixteen of the patients had a previous viral or bacterial infection. Difficulty in walking was the main symptom at the onset of illness. Arreflexia and motot paralysis were always symmetrical and ascending. Albumino-cytological dissociation in the C.S.F. was found in the whole group. An evolutive study was made of the recovery of movement, C.S.F. and tendon reflexes which occurred in this order except in two cases which showed abnormal evolution. We emphasize the extent and frequency of respiratory difficulties at the onset of illness. Some etiopathogenic aspects, the lack of specifity of the syndrome and the differences of the diagnosis with that of poliomyelitis are commented. We point out the lack of effect of the corticosteroids treatment and the positive effects of phisiotherapy after the acute stage. PMID:1267306

  4. The metabolic syndrome in survivors of childhood acute lymphoblastic leukemia in Isfahan, Iran

    Directory of Open Access Journals (Sweden)

    Nahid Reisi

    2009-04-01

    Full Text Available

    • BACKGROUND: To determine the prevalence of metabolic syndrome in survivors of childhood leukemia in Isfahan, Iran.
    • METHODS: During a 4-year period (2003 to 2007, 55 children (33 male and 22 female diagnosed with ALL at Unit of Hematology/ Oncology, Department of Pediatrics, Isfahan University of Medical Science, were enrolled in this crosssectional study. Metabolic syndrome was defined using the modified version of Adult Treatment Panel (ATP III criteria. Insulin resistance was defined based on the homeostasis model assessment index (HOMA-IR.
    • RESULTS: The mean age of participates was 10.4 years (range 6-19 years and the mean interval since completion of chemotherapy was 35 months. Twenty percent (11/55 of survivors (10 male, 1 female met criteria for diagnosis of metabolic syndrome. Obesity was observed in one forth of patients and nearly 3/4 of obese patients had metabolic syndrome. High serum insulin levels were found in 16% of participants and in 63% of obese survivors. The mean insulin levels in survivors with metabolic syndrome was three-times more than those without (28.3 mu/l vs. 9.57 mu/l, p = 0.004. Insulin resistance was detected in 72.7% of survivors with metabolic syndrome and it was  ositively correlated with serum triglycerides (0.543, p < 0.001, systolic and diastolic BP (0.348, p = 0.01 and 0.368, p = 006 respectively, insulin levels (0.914, p < 0.001 and blood sugar (0.398, p = 003.
    • CONCLUSIONS: The prevalence of metabolic syndrome in survivors of childhood leukemia in Iran is higher than developed countries. Nearly all of the obese patients had metabolic syndrome. Weight control and regular physical exercise are recommended to the survivors.
    • KEYWORDS: Acute lymphoblastic leukemia, metabolic syndrome, obesity, children.

  5. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

    Science.gov (United States)

    Kinali, M; Beeson, D; Pitt, M C; Jungbluth, H; Simonds, A K; Aloysius, A; Cockerill, H; Davis, T; Palace, J; Manzur, A Y; Jimenez-Mallebrera, C; Sewry, C; Muntoni, F; Robb, S A

    2008-09-15

    The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia (9/46), central hypotonia or neurometabolic disease (5/46), myasthenia gravis (4/46), limb-girdle or congenital muscular dystrophy (4/46) and SMA (2/46). Diagnosis was often considerably delayed (up to 18y4 m), despite the early symptoms in most cases. Diagnostic clues in the neonates were feeding difficulties (29/46), hypotonia with or without limb weakness (21/46), ptosis (19/46), respiratory insufficiency (12/46), contractures (4/46) and stridor (6/46). Twenty-five children had delayed motor milestones. Fatigability developed in 43 and a variable degree of ptosis was eventually present in 40. Over the period of the study, the mainstay of EMG diagnosis evolved from repetitive nerve stimulation to stimulation single fibre EMG. The patients were studied by several different operators. 66 EMGs were performed in 40 children, 29 showed a neuromuscular junction abnormality, 7 were myopathic, 2 had possible neurogenic changes and 28 were normal or inconclusive. A repetitive CMAP was detected in only one of seven children with a COLQ mutation and neither of the two children with Slow Channel Syndrome mutations. Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT. 24 of 25 muscle biopsies showed myopathic changes with fibre size variation; 14 had type-1 fibre predominance. Three cases showed small type-1 fibres resembling fibre type disproportion, and four showed core-like lesions. No specific myopathic features were associated with any of the genes. Twenty children responded to Pyridostigmine treatment alone

  6. 肾病综合征、糖尿病、癫痫、预激综合征和神经肌源性损害%Recurrent nephrotic syndrome with diabetes,epilepsy,pre-excitation syndrome and neuromyopathy-case report

    Institute of Scientific and Technical Information of China (English)

    全军肾脏病研究所学术委员会; 许书添; 谢红浪; 刘志红

    2012-01-01

    A 19-year-old female patient with mitochondria] disease manifested primarily nephrotic syndrome, following diabetes, epilepsy, pre-excitation syndrome and neuromyopathy was reported. A novel change 8969G > A mutation in mitochondrial-DNA was found in peripheral blood. This case may be helpful for clinicians to pay attention on mitochondrial disease,which usually manifest multisystemie dysfunction with a broad clinical spectrum,not simply confined to ihe diagnosis of kidney, to avoid errors and missions of diagnosis. When the tests for common mitochondrial DNA (mtDNA) point mutations are negative and the mtDNA defects are still hypothesized, it is necessary to screen the entire mitochondrial genome for unknown mutations in order to confirm the diagnosis.%青年女性患者,肾病综合征起病,病程中逐渐出现糖尿病、癫痫、预激综合征及神经肌源性损害等多系统病变;经外周血细胞线粒体基因组检测证实线粒体DNA 8969位点G→A发生点突变,它是线粒体病的一个新基因位点突变.提示一旦高度疑似线粒体病,虽未发现经典位点基因突变,仍需检测整个线粒体基因组.警示临床医师应根据患者肾外多系统受累并结合相关实验室检查综合分析,不要仅限于肾活检病理诊断,以免误诊、漏诊.

  7. Pulmonary embolism in nephrotic syndrome with thrombophilia

    OpenAIRE

    Pereira, J; F. LEITE; Pio, D.; Morais, L; Costa, T; Faria, M.; Barbot, J.; Mota, C.

    2011-01-01

    Introdução: As crianças com síndrome nefrótico (SN) têm um risco aumentado de complicações tromboembólicas. Caso clínico: Adolescente de 12 anos, sexo masculino, com síndrome nefrótico corticorresistente, medicado com prednisolona, ciclosporina, omeprazol, enalapril e ácido acetilsalicílico. Internado por quadro clínico de anasarca e oligúria com boa resposta clínica inicial à perfusão diária de albumina. Ao quarto dia de internamento iniciou febre, toracalgia, expectoração hem...

  8. Neurologic complications of cerebral angiography in childhood moyamoya syndrome

    International Nuclear Information System (INIS)

    Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher's exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders. (orig.)

  9. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome.

    Science.gov (United States)

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral view confirmed a MLS, which was further corroborated by high resolution computed tomography. Central bronchiectasis was also observed, which prompted a work-up for ABPA. The child met 7/8 major diagnostic criteria for ABPA. She was then initiated on oral prednisolone that resulted in a marked clinical improvement within a fortnight. Radiological clearance occurred at 3 months with inflation of the middle lobe. ABPA presenting with MLS in a child is yet to be reported. A high index of suspicion is required to establish the diagnosis of ABPA in a child presenting with MLS. This would obviate the invasive investigations usually done to ascertain the cause of MLS. PMID:26844222

  10. Long-term follow-up of pediatric patients with nephrotic syndrome treated at Hospital Universitario San Vicente de Paúl (Medellín (HUSVP, Colombia, between January 1960 and December 2009 = Evolución a largo plazo de los niños con diagnóstico de síndrome nefrótico atendidos en el Hospital Universitario San Vicente de Paúl, Medellín, entre enero de 1960 y diciembre de 2009

    Directory of Open Access Journals (Sweden)

    Atehortúa Baena, Paola Shyrley

    2013-04-01

    Full Text Available Introduction: Nephrotic syndrome (NS is a glomerular disease that frequently affects children. There have been few studies on it in Colombia.Objective: To describe the clinical and epidemiological features of children with SN treated at HUSVP between 1960 and 2009.Methodology: Retrospective and descriptive study.Results: Steroid-sensitive nephrotic syndrome was diagnosed in 87.9% of the patients, and between 1.7%-5.4% turned steroid-resistant. Biopsies revealed disease with minimal changes in 43.6% and focal segmental glomerulosclerosis in 37.3%. Additional immunosuppressive therapy was required by 40% of the patients; in 88.8% of these, cyclophosphamide was used, and remission was achieved in 85.7%. In 56% of the cases there were complications that were infectious in 52%. Nine percent of the patients progressed to end-stage renal disease. Mortality rate was 5.7%.Discussion: The large number of patients with nephrotic syndrome studied in this series and the long period of follow-up (up to 35 years provide valuable information about the clinical behavior of this syndrome in Colombia and on its response to immunosuppressive therapy.

  11. 我院肾病综合征超说明书用药分析%Analysis of Off-label Drug Use in Nephrotic Syndrome in Our Hospital

    Institute of Scientific and Technical Information of China (English)

    黄婧; 于西全; 陈威

    2016-01-01

    Objective:To analyze the rationality of off-label drug use in nephritic syndrome prescriptions to provide scientific basis for clinical rational drug use and further regulate the off-label drug use in our hospital. Methods:Totally 1 908 outpatient prescriptions of nephritic syndrome selected from our hospital during November 2014 to April 2015 were analyzed, and all the off-label drugs were listed . The rationality of the off-label drug use was analyzed and evaluated by searching the related kidney disease guidelines and litera-tures. Results:The off-label drug use of tacrolimus capsules, mycophenolate mofetil capsules, cyclophosphamide for injection, ciclos-porin soft capsules, dipyridamole tablets, hydroxychloroquine sulfate tablets and warfarin sodium tablets were recommended by domes-tic and overseas guidelines with better evidence of evidence-based medicines. Tripterygium glycosides tablets and leflunomide tablets were supported by the literatures on clinical studies at home and abroad. The above 9 kinds of off-label drugs were rational drug use. Lumbrokinase enteric-coated capsules, salvia miltiorrhiza and ligustrazine injection and pidotimod dispersible tablets were reported only by a handful of journals. Bacteria lysate capsules and boric acid powder had no related information support, which belonged to the em-pirical prescriptions of physicians. The above 5 kinds of off-label drugs were not rational drug use. Conclusion:It is a widely existing phenomenon that the medication in nephrotic syndrome is beyond the instruction, the most of off-label drug use are reasonable, and cli-nicians should prescribe medicines carefully. Our hospital needs to further standardize the management of off-label drug use supported by higher evidence in order to improve the level of clinical rational drug use and the reasonable rate of prescriptions.%目的::分析我院治疗肾病综合征超说明书用药的合理性,为临床合理用药提供科学依据,并进一

  12. The Relationship between Metabolic Syndrome and Childhood Maternal Education Level, Job Status Findings from the Korean National Health and Nutrition Examination, 2007-2009

    OpenAIRE

    Choi, Bo-Yoon; Lee, Duk-Chul; Chun, Eun-Hye; Lee, Jee-Yon

    2014-01-01

    Background Childhood socioeconomic status (SES) is known to affect cardio-metabolic disease risk. However, the relationship between childhood SES and metabolic syndrome (MetS) remains uncertain. Therefore, we investigated the relationship between childhood SES, as measured by maternal education and occupational status and adult-onset MetS in the Korean population. Methods We examined the association between childhood SES, as measured by maternal education level and occupational status during ...

  13. Identification of the lymphokine soluble immune response suppressor in urine of nephrotic children.

    OpenAIRE

    Schnaper, H W; Aune, T M

    1985-01-01

    Patients with minimal change nephrotic syndrome (MCNS) frequently have suppressed in vivo and in vitro immune responsiveness of uncertain etiology. Because increased suppressor cell activity has been associated with this disease, urines from MCNS patients were screened for activity of the lymphokine soluble immune response suppressor (SIRS), a product of concanavalin A- or interferon-activated suppressor T cells. Urines from untreated MCNS patients suppressed polyclonal plaque-forming cell re...

  14. Clinical analysis of spontaneous bacterial peritonitis in children with nephrotic syndrome%儿童肾病综合征并自发性细菌性腹膜炎临床分析

    Institute of Scientific and Technical Information of China (English)

    樊剑锋; 刘小荣; 孟群; 张桂菊; 周楠; 陈植; 蒋也平

    2015-01-01

    目的 探讨肾病综合征(NS)并自发性细菌性腹膜炎(SBP)患儿的临床特征.方法 回顾性总结2010年1月至2014年6月在首都医科大学附属北京儿童医院肾内科住院的11例NS合并SBP患儿的临床表现、实验室资料和治疗情况.结果 11例NS患儿共发生12例次SBP,其中1例患儿发生2次.男9例,女2例;发病年龄2岁11个月~14岁11个月.9例患儿接受糖皮质激素和/或免疫抑制剂治疗.11例患儿均有不同程度的腹痛,其中7例起病缓,全腹胀痛不伴反跳痛和腹肌紧张.出现发热10例,腹胀8例,腹泻5例,呕吐4例.2例患儿病程中突然出现休克.全部患儿存在高度水肿,其中5例表现为腹水迅速增加,利尿剂治疗无效.11例患儿外周血白细胞计数和C反应蛋白均升高.血清清蛋白水平明显降低.CD4辅助细胞比例和血IgG水平降低.腹水外观混浊呈脓样,中性粒细胞计数升高.2例患儿腹水培养和血培养肺炎链球菌阳性,均应用抗生素治疗.9例患儿应用单一抗生素治疗,疗程7~10 d.2例血培养阳性的危重患儿抗生素疗程4周.5例患儿采用腹腔穿刺放液治疗.1 1例患儿腹膜炎全部治愈.2例肾病复发患儿在腹膜炎治愈后尿蛋白转阴.结论 SBP在NS患儿表现不典型,甚至缺少腹膜激惹征,容易漏诊导致病情突然恶化,需要临床医师予以重视.SBP亦会导致NS复发,腹膜炎的治愈有助于原发病的缓解.%Objective To explore the clinical feature of spontaneous bacterial peritonitis (SBP) in children with nephrotic syndrome (NS).Methods Eleven cases of SBP in children with NS from Department of Nephrology,Beijing Children's Hospital Affiliated to Capital University of Medical Science between January 2010 and June 2014 were analyzed retrospectively.The clinical features,laboratory data and efficacy of therapy were reviewed.Results In this study,12 episodes of primary peritonitis were detected in 11 patients.One patient had 2 attacks

  15. Characteristics of Mood Status in School-Aged Children with Nephrotic Syndrome and Their Primary Caregivers%学龄期肾病综合征患儿及其主要照顾者的心境现状

    Institute of Scientific and Technical Information of China (English)

    张大华; 张凡; 贾玉静; 张臻

    2012-01-01

    Objective To investigate the prevalence and characteristics of mood status in children with nephrotic syndrome ( NS ) and their primary caregivers. The correlative factors of the mood status of school - aged children with NS and their primary caregivers were analyzed. Methods There were 43 cases with NS. General information from enrolled subjects was collected by using self - designed questionnaires used in this study. Screening for Child Anxiety Related Emotional Disorders (SCARED) , Depression Self- Rating Scale for Children ( DSRSC), Self - rating Anxiety Scale (SAS) and Self - rating Depression Scale (SDS) were performed on the subjects. Statistical analysis was performed by using SPSS 14.0 software. Results 1. The total positive rates were 32.6% (14/43 cases) and 44.2% (19/43 cases) in children with NS and their primary caregivers, respectively. The scores of anxiety and depression in children with NS and their primary caregivers were higher than those in the general population,and there was significant statistical difference between the primary caregivers and the general population. 2. There was no correlation between sex, age, mothers' educational level, family finance status, family residence, disease relapses during the past 6 months, the primary caregivers' type, the primary caregivers' mood status and the mood status in children with NS. There was correlation among mood status of the primary caregivers, the primary caregivers' type, family residence, and disease relapses during the past 6 months. Conclusions Medical staff should pay attention to the mood status in children with NS and their primary caregivers. It should be recognized and treated as early as possible. The life quality of patients and their family might be improved through individual intervention.%目的 探讨学龄期肾病综合征(NS)患儿及其主要照顾者的心境现状,并分析影响学龄期NS患儿及其主要照顾者心境现状的相关因素.方法 NS患儿43例.采用

  16. Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report

    Directory of Open Access Journals (Sweden)

    Raza Farhan

    2012-10-01

    Full Text Available Abstract Introduction Gitelman syndrome is an inherited autosomal recessive renal salt-wasting disorder. It presents with variable clinical symptoms including muscle weakness and fatigue, and the diagnosis is based on metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. It is usually diagnosed incidentally in early adulthood. There are rare cases of Gitelman syndrome presenting in early childhood; however, to the best of our knowledge it has not previously been associated with delayed puberty. Case presentation A 17-year-old South Asian man with recurrent episodes of generalized muscle weakness, fatigue and cramps from the age of two years was admitted for further workup. Before the age of 12 years, the episodes had been mild, but they then got progressively worse. Other symptoms include polyuria, polydipsia, nocturia, paresthesia and occasional watery diarrhea. He also had a history of short stature, poor weight gain and delayed developmental landmarks. His family history was unremarkable except for the consanguineous marriage of his parents. An examination revealed a thin and lean man with blood pressure of 95/60mmHg. His height and weight were below the third percentile and his sexual development was at Tanner Stage II. Laboratory work revealed serum sodium of 124mmol/L, potassium 2.4mmol/L, calcium 6.5mmol/L and magnesium of 1.2mg/dL. His testosterone level was low (0.85ng/mL, normal for his age 2.67 to 10.12ng/mL with normal levels of luteinizing hormone and follicle-stimulating hormone. The sex hormone findings were attributed to delayed puberty. A 24-hour urinary analysis revealed decreased excretion of calcium (25.9mg/24 hours. Based on the findings of hypokalemic metabolic alkalosis without hypertension, severe hypomagnesemia and hypocalciuria, a diagnosis of Gitelman syndrome was made. Treatment was started with oral supplementation of potassium, magnesium and calcium along with spironolactone and liberal salt intake

  17. Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness.

    Science.gov (United States)

    Ahmad, Afzal; D'Souza, Benedicta; Yadav, Charu; Agarwal, Ashish; Kumar, Anand; Nandini, M; D'Souza, Vivian; Poornima, A M; Kamath, Nutan

    2016-10-01

    Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age. PMID:27605748

  18. Peculiaridades da terapia trombolítica na síndrome nefrótica pediátrica: monitorização do fator anti-Xa Particularities of thrombolytic therapy in pediatric nephrotic syndrome: anti-factor Xa monitoring

    Directory of Open Access Journals (Sweden)

    Patrícia Zambi Meirelles

    2008-06-01

    Full Text Available OBJETIVO: Descrever a importância do tromboembolismo pulmonar (TEP na síndrome nefrótica pediátrica e o uso da heparina de baixo peso molecular como opção terapêutica segura e eficaz. DESCRIÇÃO DO CASO: Menino de 5,7 anos com síndrome nefrótica córtico-resistente e glomérulo-esclerose segmentar e focal foi internado devido à diarréia, distúrbios eletrolíticos e anasarca. No 11º dia de internação, evoluiu com desconforto respiratório súbito, cuja investigação mostrou área de alta probabilidade de TEP na cintilografia pulmonar ventilação/perfusão e obstrução em veia jugular interna esquerda ao ultra-som doppler. Iniciado suporte ventilatório com nebulização de oxigênio e anticoagulação com enoxaparina (2mg/kg/dia. Após seis dias, evoluiu com sintomas neurológicos compatíveis com episódio isquêmico transitório, sem alteração na tomografia computadorizada de crânio. A monitorização do fator anti-Xa no soro demonstrou nível subterapêutico e a dose de enoxaparina foi ajustada para 3mg/kg/dia. O edema e os sintomas pulmonares melhoraram e o paciente recebeu alta hospitalar após 33 dias. COMENTÁRIOS: Embora o TEP seja raro em crianças, a síndrome nefrótica é uma condição pró-trombótica que favorece a complicação. A heparina de baixo peso molecular pode ser considerada no tratamento e na profilaxia secundária do TEP, sendo importante monitorizar o nível sérico do fator anti-Xa para ajustar sua dose e promover tratamento seguro e eficaz.OBJECTIVE: Report the importance of pulmonary thromboembolism (PTE in pediatric nephrotic syndrome and the use of low molecular weight heparin (LMWH as an effective and secure therapeutic option. CASE DESCRIPTION: A 5.7 year-old boy with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis was admitted to the pediatric unit with diarrhea, electrolyte disturbances and anasarca. On the 11th day of hospital stay, he developed a sudden

  19. 自我效能对肾病综合征患者饮食自我管理水平的影响%Study on the effect of self-efficacy on the level of dietary self-management of patients with nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    林剑珊; 黄燕林

    2010-01-01

    Objective To study the effect of self-efficacy on the level of dietary self-management of patients with nephrotic syndrome. Methods Data collected from 128 patients with nephrotic syndrome measured by Self-Management Scale and General Self-Efficacy Scale. 65 patients in the experimental group were given self-efficacy training, and the other 63 patients in the control group were given clinical general nursing. After 6months, data were collected again. Results Before intervention, two groups had no significant difference both in self-management and self-efficacy( P > 0.05 ). After intervention, two groups had significant differences both in self-management and self-efficacy ( P < 0.05 ). There was correlation between the scores of self-efficacy and the level of dietary self-management. Conclusions The higher the scores of self-efficacy, the better the level of dietary self-management the patients with nephrotic syndrome got. The self-efficacy training had more advantages in improving the patients'dietary self-management level than clinical general nursing.%目的 探讨自我效能对肾病综合征患者饮食自我管理水平的影响.方法 将128例肾病综合征患者分为实验组(n=65)和对照组(n=63),实验组给予自我效能训练,对照组给予常规指导,干预前后采用肾病综合征患者自我管理行为问卷和一般自我效能感量表对f两组患者进行调查评估.结果 干预前两组患者在饮食自我管理、自我效能的得分情况方面的比较均无统计学意义(P>0.05);干预后实验组患者在饮食自我管理水平方面高于对照组,差异统计学意义(P<0.05);干预后两组患者在自我效能得分情况方面的比较差异有统计学意义(P<0.05);患者自我效能得分值与因子饮食自我管理得分值呈正相关.结论 肾病综合征患者自我效能越高,其饮食自我管理水平就越高.自我效能训练在提高肾病综合征患者饮食自我管理水平方面比传统的常规指导更具有优势.

  20. Reversible posterior leukoencephalopathy syndrome in childhood: report of nine cases and review of the literature.

    Science.gov (United States)

    Gümüş, Hakan; Per, Hüseyin; Kumandaş, Sefer; Yikilmaz, Ali

    2010-04-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is recently described disorder with typical radiological findings in the posterior regions of the cerebral hemisphere and cerebellum. Its clinical symptoms include headache, decreased alertness, mental abnormalities, such as confusion, diminished spontaneity of speech, and changed behavior ranging from drowsiness to stupor, seizures, vomiting and abnormalities of visual perception like cortical blindness. RPLS is caused by various heterogeneous factors, the commonest being hypertension, followed by non-hypertensive causes such as eclampsia, renal diseases and immunosuppressive therapy. We presented nine patients with RPLS who had primary diagnoses such as acute post-streptococcal glomerulonephritis, idiopathic hypertension, the performing of intravenous immunoglobulin for infection with crescentic glomerulonephritis, erythrocyte transfusion for severe iron deficiency, L: -asparaginase treatment for acute lymphoblastic leukemia and performing of granulocyte-colony stimulating factor for ulcerative colitis due to neutropenia. Early recognition of RPLS as complication during different diseases and therapy in childhood may facilitate precise diagnosis and appropriate treatment. PMID:19809787

  1. Síndrome nefrótica primária grave em crianças: descrição clínica e dos padrões histológicos renais de seis casos Severe primary nephrotic syndrome in children: description of clinical aspects and of the renal histological patterns of six cases

    Directory of Open Access Journals (Sweden)

    Márcia Camegaçava Riyuzo

    2006-10-01

    Full Text Available Os autores relatam os casos de seis crianças com síndrome nefrótica primária grave de padrão histológico renal incomum na rotina cotidiana dos nefrologistas e patologistas. O diagnóstico da doença foi realizado nas faixas etárias de 3 a 9 meses de idade (n = 4, aos 2 anos e 4 meses (n = 1 e aos 11 anos (n = 1. Um paciente foi prematuro, duas pacientes eram irmãs e seus pais eram primos de primeiro grau. Todos apresentavam edema generalizado; dois pacientes apresentavam desnutrição e hipotireoidismo e dois apresentavam hipertensão arterial e insuficiência renal. A histologia renal mostrou esclerose mesangial difusa (n = 3, proliferação mesangial (n = 2 e síndrome nefrótica do tipo finlandês (n = 1. Quatro pacientes faleceram, as causas de óbito foram infecção (n = 2, insuficiência renal (n = 1 e acidose metabólica (n = 1. Entre os sobreviventes, um paciente foi tratado com vitaminas, tiroxina, captopril e indometacina, apresentando aumento da albumina sérica e melhora do crescimento. O outro paciente apresentava insuficiência renal terminal, sendo tratado com diálise e transplante renal.The authors report six children with severe primary nephrotic syndrome with unusual renal histological patterns in the daily routine of nephrologists and pathologists. The diagnosis of the disease was made at the age between 3 to 9 months (n = 4, at 2 years and 4 months (n = 1 and at 11 years (n = 1. One patient was born prematurely; two patients were sisters and their parents were first-degree cousins. All patients presented generalized edema, two patients presented malnutrition and hypothyroidism; two patients presented hypertension and renal failure. The renal histology showed diffuse mesangial sclerosis (n = 3; diffuse mesangial hypercellularity (n = 2 and nephrotic syndrome of the Finnish type (n = 1. Four patients died, causes of death were infection (n = 2, renal failure (n = 1 and metabolic acidosis (n = 1. Among the survivors

  2. 评价中医益气固摄法治疗原发性肾病综合征的疗效与安全性%Evaluation on the Efficacy and Safety of Traditional Chinese Medicine in the Treatment of Primary Nephrotic Syndrome

    Institute of Scientific and Technical Information of China (English)

    刘蕊

    2015-01-01

    ObjectiveTo study the clinical treatment effect of primary nephrotic syndrome with the method of Supplementing Qi and nourishing qi in the treatment.Methods 68 patients with primary renal disease treated in our hospital from January 2014 to January 2015, who were divided into control group and observation group. The control group was treated by using the method of Supplementing Qi and nourishing therapy. The clinical efficacy of the two groups were compared.Results The total effective rate was 91.18% in the observation group and 70.41% in the control group(P<0.05),while the patients in the observation group were significantly different from the control group(24 h). 3 cases in the observation group and 8 cases in the control group. Conclusion The treatment of patients with primary nephrotic syndrome with traditional Chinese medicine therapy can improve the clinical effect.%目的:研究分析中医益气固摄法在治疗原发性肾病综合征的临床疗效。方法选择我院2014年1月~2015年1月收治的原发性肾病68例,将其按照治疗方法分为对照组和观察组,对照组患者给予西药治疗,观察组在对照组基础上应用益气固摄法进行治疗,比较两组患者的临床疗效。结果观察组总有效率为91.18%,对照组为70.41%,比较差异有统计学意义(P<0.05);同时观察组患者经治疗后血白蛋白、24 h尿蛋白定量改善情况均优于对照组,比较差异有统计学意义(P<0.05);观察组与对照组中分别有3例、8例出现不良反应。结论给予原发性肾病综合征患者应用中医益气固摄法进行治疗,可提升临床疗效。

  3. [Markers of metabolic syndrome and peptides regulating metabolism in survivors of childhood acute lymphoblastic leukemia].

    Science.gov (United States)

    Skoczeń, Szymon; Tomasik, Przemysław; Balwierz, Walentyna; Surmiak, Marcin; Sztefko, Krystyna; Galicka-Latała, Danuta

    2011-01-01

    Along with the growing epidemic of overweight the risk of atherosclerosis, cardiovascular disease morbidity and mortality are increasing markedly. Metabolic syndrome (MS) is a condition clustering together several risk factors of those complications such as visceral obesity, glucose intolerance, arterial hypertension and dislipidemia. The risk of obesity in acute lymphoblastic leukemia (ALL) survivors is higher than in general population. We aimed to assess (1) the relationships between chosen adipokines and neuropeptides, chemotherapy, CRT, and body fatness and (2) evaluate adipokines and neuropeptides concentrations as a new markers of MS in children. We conducted cross-sectional evaluation of 82 ALL survivors (median age: 13.2 years; range: 4,8-26,2; median time from treatment: 3.2 years), including fasting laboratory testing: peptides (leptin, GLP-1, orexin, PYY, apelin), total cholesterol and its fractions, triglycerides; anthropometric measurements (weight, height), systolic and diastolic blood pressure. We estimated percentiles of body mass index and percentiles of blood pressure. Between 82 survivors overweight and diastolic hypertension was diagnosed in 31% of patients (35% in CRT group) and 15% respectively. At least one abnormality in lipids concentrations was found in 43%. Girls were more affected than boys. Statistically significant increased in leptin and apelin concentrations and decreased in soluble leptin receptor concentrations in the overweight group were observed compared to the non overweight subjects. Significant increase in orexin levels in females who had received CRT compared to those who had not received CRT was found. CRT is the main risk factor of elevated of body mass among survivors of childhood leukemia. Dyslipidemia and hypertension, along with increased adiposity indicate higher risk of MS development. Girls are more affected than boys. Leptin, orexin and apelin seem to be good markers of increased adiposity especially after CRT

  4. Serum level of 25-hydroxyvitamin D in children with nephrotic syndrome and determinants analysis%肾病综合征患儿血清25-羟维生素D的影响因素分析

    Institute of Scientific and Technical Information of China (English)

    梁慧开; 周建华; 仇丽茹; 程黎明; 鲍春; 李辉军

    2014-01-01

    [25(OH)D]in children with nephrotic syndrome (NS)and relevant factors. Methods Clinical data of NS paitients hospitalized at Tongji Hospital affiliated to Tongji Medical College of Huazhong University of Science & Technology from January 2012 to December 2012 were retrospectively collected,and healthy children coming for physical examination were enrolled as normal control group. The serum levels of 25( OH )D were defined as deficiency(≤20 ng · mL-1 ). Univariate analysis and multivariable logistic regression analysis were performed to explore the possible influencing factors related to vitamin D deficiency. Meanwhile,multi-regression analysis was used to investigate the potential factors affecting serum 25( OH)D level. Results A total of 222 subjects were enrolled,including 139 patients with NS and 83 healthy children. The serum 25(OH)D level of NS group was siginificantly higher than control group,(10. 3 ± 7. 5)vs (29. 42 ± 9. 85)ng·mL-1 ,P<0. 000 1. The prevalence rates of vitamin D deficiency of NS and control groups were 86. 3% and 19. 3%(P<0. 000 1). The multivariate logistic regression showed that patients with higher weight Z-score(0. 151,95%CI:0. 035-0. 649),longer duation of NS(0. 143,95%CI:0. 035-0. 592),greater 24 h protein amount(28. 177,95%CI:3. 295-240. 970)were significantly assocaited with vitamin D deficiency. Multiple linear regression determined that serum 25( OH)D levels were associated with male,24 h urinary protein amount,cumulative glucocorticoid dosage and serum calcium level( P<0. 05). Serum levels of 25(OH)D were significantly increased after treatment with alfacalcidol for 3 months,(7. 2 ± 5. 0)to (14. 9 ± 11. 0)ng·mL-1 ,P=0. 001. Conclusion Vitamin D deficiency was significantly associated with urine protein amount. Alfacalcidol supplements may improve vitamin D deficiency in nephritic patients.

  5. Long-term Impact of Childhood Adiposity on Adult Metabolic Syndrome Is Modified by Insulin Resistance: The Bogalusa Heart Study

    OpenAIRE

    Zhang, Huijie; Zhang,Tao; Li, Shengxu; LI, YING; Hussain, Azad; Fernandez, Camilo; Harville, Emily; Bazzano, Lydia A.; He, Jiang; Chen, Wei

    2015-01-01

    Childhood adiposity and insulin resistance are well-known risk factors for adult metabolic syndrome (MetS). This study aims to examine whether the association between childhood adiposity and adult MetS is modified by insulin resistance. The cohort consisted of 1,593 black and white subjects, aged 19–50 years at follow-up, who were examined 19 years apart on average as children and adults for MetS variables. The prevalence of adult MetS was compared between the insulin-sensitive obesity and in...

  6. 同时接种b型流行性感冒嗜血杆菌结合疫苗和流行性乙型脑炎减毒活疫苗偶合肾病综合征1例报告%1 Cases of Nephrotic Syndrome Caused by B Type Haemophilus Influenzae Vaccine and Japanese Encephalitis Vaccine at the Same Time

    Institute of Scientific and Technical Information of China (English)

    李彩霞

    2015-01-01

    报告1例同时接种b型流行性感冒嗜血杆菌结合疫苗和流行性乙型脑炎减毒活疫苗偶合肾病综合征患者,判断其是否是异常接种反应。通过本例提示预防接种人员在实施预防接种前,要详细询问接种对象的健康状况和观察其精神状态,严格把握接种禁忌证,以减少异常反应发生或减少偶合疾病,化解医患之间矛盾,确保免疫规划工作正常开展。%Report one patient who inoculated B type of influenza Haemophilus Conjugate Vaccine and Japanese encephalitis at enuated live vaccine coupled with nephrotic syndrome,to determine whether it is abnornal vaccination reaction.Vaccination staf s should ask the vaccinated people about health in detail and look into their mental condtion and control strictly vaccination contraindication to reduce abnormal reactions or diseases and resolve conficts between doctors and patients to ensure immunazation programs proceeded wel .

  7. Serum erythropoietin level in anemic and non-anemic nephrotic children with normal kidney functions

    International Nuclear Information System (INIS)

    Nephrotic syndrome (NS) is associated with a significant alteration in protein metabolism. While lowering the concentration of certain proteins, the disease often raises the level of certain other proteins. The current study aimed to investigate the serum erythropoietin (EPO) levels in children with NS either anemic or non-anemic and to compare them to children with iron deficiency anemia (IDA) and healthy controls with normal hemoglobin level (NHB). Sixteen nephrotic children with anemia (NS-A) and 15 nephrotic children with normal hemoglobin level (NS-NHB) were examined and compared with 10 children with iron deficiency anemia (IDA) and 10 healthy controls (NHB). Circulating serum EPO levels, blood indices and iron status were measured in nephrotic patients with anemia (NS-A) and compared to those nephrotic patients with normal HE (NS-NHB). Most NS-A children were steroid resistant. The NS-A children showed greater EPO levels than those without anemia (21.01 ±4.02 mlU/ml versus 9.18 ± 0.79 mlU/ml; P < 0.001) but their response to treatment of anemia was inappropriately low when compared to IDA (EPO 96.9 ±4.9 mlU/ml) despite similar HB concentration. A significant positive correlation was observed between serum EPO and serum albumin in NS-A (r = 0.84, P < 0.001) and in NS-NHB group (r = 0.89, P < 0.001). Moreover, a significant positive correlation was observed between serum EPO and HB in the nephrotic groups indicating a blunted EPO response to anemia in NS-A (r 0.63, P < 0.05) and in NS-NHB group (r = 0.80, P < 0.001). In conclusion, anemia is a common feature of NS and is present even before the worsening of kidney function. Depletion of the iron stores due to loss of iron and transferrin in urine due to massive proteinurea may contribute to the development of anemia, but it was found that iron replacement was ineffective alone

  8. CHILDHOOD GUILLIAN-BARRE SYNDROME IN THE IRAN’S EAST AZERBAIJAN PROVINCE: 2001-2005

    Directory of Open Access Journals (Sweden)

    M. Barzegar

    2008-10-01

    Full Text Available Objective This study aims at determining the epidemiologic, presenting symptoms, clinical course and electrophysiologic features of childhood Guillain-Barre Syndrome(GBS in the East Azarbaijan province over a period of five years. Materials & Methods All the patients, aged< 15 years, referred/admitted to Tabriz Children Hospital with GBS between January 2001 and December 2005 were investigated.Results One hundred and twelve subjects were enrolled during this period. The average annual incidence rate was 2.21 per 100000 population of children aged<15years(CI 95%: 1.8-2.6; the highest proportion of 29% was observed in winter (P=0.10; mean age (SD of subjects was 5.1 (3.3 years, while 61.6% were ≤5years. The male/female ratio was 1.3. Antecedent events were identified in 80(71.4% patients. The most common manifestation was limb weakness; at the peak of the disease course, only 8 (7.1% patients were able to walk without assistance. Cranial nerve involvement was found in 37.5%. Fifteen percent of patients had autonomic dysfunction, and 32.2% complained of neuropathic pain. Artificial ventilation was needed in 10.7% of patients, and three patients (2.7% died due to cardiac arrest. Electrophysiological examination showed the demyelinating type of the disease in 54.5%; axonal type in 35.7% and 9.8% as unclassified or normal pattern. Short time to reach nadir (P=0.008, cranial nerve involvement (P=0.000, autonomic involvement (P=0.001, and axonal pattern on electro diagnosis (P=0.043 were found as risk factors for respiratory failure. In follow-up, at the end of one year, 95% of patients could walk without aid. ConclusionThe axonal type of GBS is a relatively common form of childhood GBS occurring in East Azerbaijan.

  9. IQ in Childhood and the Metabolic Syndrome in Middle Age: Extended Follow-Up of the 1946 British Birth Cohort Study

    Science.gov (United States)

    Richards, Marcus; Black, Stephanie; Mishra, Gita; Gale, Catharine R.; Deary, Ian J.; Batty, David G.

    2009-01-01

    IQ in early adulthood has been inversely associated with risk of the metabolic syndrome in midlife. We tested this association in the British 1946 birth cohort, which assessed IQ at age eight years and ascertained the metabolic syndrome at age 53 years based on modified (non-fasting blood) ATPIII criteria. Childhood IQ was inversely associated…

  10. Frontotemporal Dementia-Like Syndrome Following Recall of Childhood Sexual Abuse.

    Science.gov (United States)

    Cohen, Lisa J; Brody, David

    2015-06-01

    Numerous psychopathological syndromes have been attributed to posttraumatic stress, both at the time of the trauma and many years later. To date, however, there is little literature on pseudodementia as a delayed traumatic stress response. The authors present a case history of a 50-year-old woman who developed severe cognitive impairment following retrieval of previously forgotten memories of childhood sexual abuse. Her cognitive condition deteriorated rapidly and dramatically. Neuropsychological assessment and clinical presentation led to a diagnosis of frontotemporal dementia (vs. corticobasal degeneration). Detailed neurologic and medical evaluations could not identify any underlying physical cause. Her condition progressively worsened over 9 months, at which point memantine, an N-methyl-D-aspartate receptor antagonist, was begun. The patient regained full functioning over the next year. Although an organic cause could not be ruled out, it was likely that recovery of traumatic memories was contributory to the patient's condition, as ongoing psychotherapy had begun 1 year into the course. If additional cases with similar presentations are reported, such cases would corroborate the notion that persistent, severe, and reversible cognitive impairment constitutes a previously unrecognized and atypical posttraumatic response. PMID:25991053

  11. Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

    Science.gov (United States)

    Marignier, Stéphanie; Lesca, Gaetan; Marguin, Jessica; Bussy, Gérald; Sanlaville, Damien; des Portes, Vincent

    2012-06-01

    We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion found in CdCS. The microdeletion, characterised using aCGH (array Comparative Genomic Hybridisation), was 12.85 Mb, overlapping the 5p15.2 and 5p15.3 critical regions. CdCS is typically associated with severe mental retardation while this patient had normal intellectual performance, confirmed by normal results from categorisation tasks. This mild phenotype was assessed using a comprehensive cognitive battery. Language evaluation showed normal receptive vocabulary scores, in contrast with obvious oro-facial dyspraxia. Disabled fine motor skills were confirmed as well as weak visuo-spatial reasoning abilities. In conclusion, fine cognitive assessment may be worthwhile for patients with CdCS since good intellectual functioning may be masked by severe speech and gestural dyspraxia, thus requiring specific teaching and rehabilitation strategies. PMID:22510527

  12. Less efficient and costly processes of frontal cortex in childhood chronic fatigue syndrome

    Directory of Open Access Journals (Sweden)

    Kei Mizuno

    2015-01-01

    Full Text Available The ability to divide one's attention deteriorates in patients with childhood chronic fatigue syndrome (CCFS. We conducted a study using a dual verbal task to assess allocation of attentional resources to two simultaneous activities (picking out vowels and reading for story comprehension and functional magnetic resonance imaging. Patients exhibited a much larger area of activation, recruiting additional frontal areas. The right middle frontal gyrus (MFG, which is included in the dorsolateral prefrontal cortex, of CCFS patients was specifically activated in both the single and dual tasks; this activation level was positively correlated with motivation scores for the tasks and accuracy of story comprehension. In addition, in patients, the dorsal anterior cingulate gyrus (dACC and left MFG were activated only in the dual task, and activation levels of the dACC and left MFG were positively associated with the motivation and fatigue scores, respectively. Patients with CCFS exhibited a wider area of activated frontal regions related to attentional resources in order to increase their poorer task performance with massive mental effort. This is likely to be less efficient and costly in terms of energy requirements. It seems to be related to the pathophysiology of patients with CCFS and to cause a vicious cycle of further increases in fatigue.

  13. Altered Microstructure Within Social-Cognitive Brain Networks During Childhood in Williams Syndrome

    Science.gov (United States)

    Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen E.; Yamagata, Bun; Ullas, Shruti; Reiss, Allan L.

    2014-01-01

    Williams syndrome (WS) is a neurodevelopmental condition caused by a hemizygous deletion of ∼26–28 genes on chromosome 7q11.23. WS is associated with a distinctive pattern of social cognition. Accordingly, neuroimaging studies show that WS is associated with structural alterations of key brain regions involved in social cognition during adulthood. However, very little is currently known regarding the neuroanatomical structure of social cognitive brain networks during childhood in WS. This study used diffusion tensor imaging to investigate the structural integrity of a specific set of white matter pathways (inferior fronto-occipital fasciculus [IFOF] and uncinate fasciculus [UF]) and associated brain regions [fusiform gyrus (FG), amygdala, hippocampus, medial orbitofrontal gyrus (MOG)] known to be involved in social cognition in children with WS and a typically developing (TD) control group. Children with WS exhibited higher fractional anisotropy (FA) and axial diffusivity values and lower radial diffusivity and apparent diffusion coefficient (ADC) values within the IFOF and UF, higher FA values within the FG, amygdala, and hippocampus and lower ADC values within the FG and MOG compared to controls. These findings provide evidence that the WS genetic deletion affects the development of key white matter pathways and brain regions important for social cognition. PMID:23709644

  14. Protein abundance of urea transporters and aquaporin 2 change differently in nephrotic pair-fed vs. non-pair-fed rats

    OpenAIRE

    Bou Matar, Raed N.; Malik, Bela; Wang, Xiaonan H.; Martin, Christopher F; Eaton, Douglas C.; Sands, Jeff M.; Klein, Janet D.

    2012-01-01

    Salt and water retention is a hallmark of nephrotic syndrome (NS). In this study, we test for changes in the abundance of urea transporters, aquaporin 2 (AQP2), Na-K-2Cl cotransporter 2 (NKCC2), and Na-Cl cotransporter (NCC), in non-pair-fed and pair-fed nephrotic animals. Doxorubicin-injected male Sprague-Dawley rats (n = 10) were followed in metabolism cages. Urinary excretion of protein, sodium, and urea was measured periodically. Kidney inner medulla (IM), outer medulla, and cortex tissue...

  15. Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.

    Science.gov (United States)

    Nováková, Michaela; Žaliová, Markéta; Suková, Martina; Wlodarski, Marcin; Janda, Aleš; Froňková, Eva; Campr, Vít; Lejhancová, Kateřina; Zapletal, Ondřej; Pospíšilová, Dagmar; Černá, Zdeňka; Kuhn, Tomáš; Švec, Peter; Pelková, Vendula; Zemanová, Zuzana; Kerndrup, Gitte; van den Heuvel-Eibrink, Marry; van der Velden, Vincent; Niemeyer, Charlotte; Kalina, Tomáš; Trka, Jan; Starý, Jan; Hrušák, Ondřej; Mejstříková, Ester

    2016-06-01

    GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells). PMID:27013649

  16. Crescimento e composição corporal em crianças e adolescentes com síndrome nefrótica córtico-dependente Growth and body composition in children and adolescents with steroid-dependent nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Iza de Castro Oliveira

    2009-12-01

    Full Text Available OBJETIVO: Avaliar crescimento e composição corporal em crianças e adolescentes com Síndrome Nefrótica Córtico-Dependente (SNCD. MATERIAL E MÉTODOS: Foram incluídos todos os pacientes de 5 a 18 anos, em acompanhamento por pelo menos dois anos, com diagnóstico de SNCD. Foram coletados dados referentes a: tempo de tratamento, idade de início de tratamento, valores consecutivos do colesterol, albuminemia, proteinemia total, dose de uso de corticoide e peso, estatura e idade da primeira consulta. As avaliações antropométricas dobra cutânea triciptal e subescapular, índice de massa corpórea, circunferência muscular do braço, circunferência da cintura e z-escore de estatura/idade foram realizadas durante as consultas de rotina e realizadas somente quando se considerou a criança sem edema clinicamente visível. Estatística não paramétrica com p OBJECTIVE: To assess growth and body composition in children and adolescents with steroid-dependent nephrotic syndrome (SDNS. METHODS: All children aged 5 to 18 years diagnosed with SDNS and followed up at the Pediatric Nephrology Unit for at least two years were studied. The following data were collected from the medical records: duration of treatment; age at treatment onset; total dose of steroids (mg/ kg and mg/kg/d; weight and height at the first visit; and the albuminemia, total proteinemia, and total cholesterol values. The anthropometric measures (triceps and subscapular skinfold thickness, body mass index, arm muscle circumference, waist circumference, and height/age z-score were routinely determined when patients had no clinical edema. Nonparametric statistics was used with significance level of p < 0.05. RESULTS: The study comprised 18 patients (11 males, aged 6 to 16 years (mean age, 12.22 ± 2.98, with a mean treatment duration of 6.75 ± 3.75 years. The initial height/ age z-score values were significantly greater than the final ones (-0.69 ± 0.80 and -2.07 ± 1

  17. 糖皮质激素对原发性肾病综合征患儿社交焦虑与攻击行为的影响%Effects on Social Anxiety and Aggressive Behavior of Glucocorticoids in Children with Primary Nephrotic Syndrome

    Institute of Scientific and Technical Information of China (English)

    蒋新苗; 杨松萍

    2014-01-01

    Objective To assess the characteristics of social anxiety and aggressive behavior in receiving hormone therapy children with nephrotic syndrome(NS).Methods By convenience sampling,38 cases of children with NS were selected and their social anxiety and aggressive behavior were assessed by using Children’s Social Anxiety Questionnaire and Buss-Perry Aggression Questionnaire were applied to assess social anxiety levels and aggressive behavior before treatment(T1),the end of remission phase(T2),the day after using 1 mg/kg/d prednisone(T3)and the day after using 0.5 mg/kg/d prednisone(T4).Results Social anxiety score and aggressive behavior score were significantly different between the four measures (all P<0.05),and T2,T3,T4 scores were higher than the baseline of T1 score.Linear correlation analysis showed that social anxiety score and aggressive behavior score were positively correlated with the dose of prednisone(all P<0.05).Conclusion Levels of social anxiety and aggressive behavior in NS children trea-ted with glucocorticoids for a long time were enhanced,which requires nurses and parents to raise aware-ness and care in order to promote a better physical and psychological rehabilitation of children.%评估肾病综合征(nephrotic syndrome,NS)患儿在应用糖皮质激素后的社交焦虑和攻击性行为特点.方法采用便利抽样法选取2011年6月至2012年6月在东阳市人民医院治疗的 NS 患儿38例,应用儿童社交焦虑问卷、Buss-Perry攻击问卷于患儿激素治疗前(T1)、诱导缓解结束时(T2)、泼尼松1 mg/(kg��d)隔日时(T3)、泼尼松0.5 mg/(kg��d)隔日时(T4)进行社交焦虑水平和攻击性行为评估.结果4个时点的社交焦虑评分、攻击性行为评分差异具有统计学意义(均P<0.05),其中T2、T3、T4时点的评分均高于基线T1的评分.直线相关分析表明,社交焦虑评分、攻击性行为评分与泼尼松剂量呈正相关(均P<0.05).结论 NS患儿在长期应

  18. Padrões morfológicos de lesão glomerular e correlação com achados clinicolaboratoriais de 43 crianças com síndrome nefrótica Morphologic patterns of glomerular lesion and correlation with clinical and laboratory findings of 43 children with nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Márcia Camegaçava Riyuzo

    2004-10-01

    Full Text Available OBJETIVOS: Avaliar a associação entre os parâmetros clinicolaboratoriais e alteração morfológica de biópsias renais em crianças com síndrome nefrótica. MÉTODOS: Os dados foram obtidos dos prontuários médicos de 43 crianças com síndrome nefrótica submetidas a biópsia renal. RESULTADOS: Vinte e oito pacientes eram do sexo masculino (65,1%, idades entre 1,4 a 12 anos (média de 4,7±3,2. Quarenta e dois pacientes (97,7% apresentaram edema; 83,7%, oligúria e 32,5%, hipertensão arterial. A média de proteinúria foi 15,3g/1,73m²SC/dia e 55,8% apresentaram hematúria microscópica. As biópsias renais mostraram: glomerulonefrite proliferativa mesangial (GNPM em 37,2%, glomeruloesclerose segmentar e focal (GESF em 27,9%, alterações glomerulares mínimas (LM em 25,6%, glomerulonefrite membranoproliferativa (GNMP em 7% e glomerulonefrite membranosa (GNM em 2,3%. Vinte e seis pacientes (60,5% apresentaram resistência ao corticosteróide. Idade, sexo, hipertensão arterial, oligúria, uréia e creatinina séricas não mostraram diferenças estatísticas significativas entre os pacientes com GNPM, GESF e LM. Os pacientes com GNPM e GESF apresentaram maior freqüência de hematúria microscópica (p OBJECTIVES: To evaluate the association between clinical features and laboratory findings with the morphological changes in children with nephrotic syndrome. METHODS: The data were obtained from medical records of 43 children with nephrotic syndrome submitted to renal biopsy. RESULTS: Twenty-eight patients were male (65.1%, aged 1.4-12 years (mean 4.7 ± 3,2. Forty-two patients (97,7% presented edema, 83.7% oliguria and 32.5% hypertension. The mean of proteinuria was 15.3g/1.73m² BSA per day and 55.8% presented microscopic hematuria. Renal biopsies showed: proliferative mesangial glomerulonephritis (PMGN in 37.2%, focal segmental glomerulosclerosis (FSGS in 27.9%, minimal change disease (MCD in 25.6%, membranoproliferative

  19. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    Science.gov (United States)

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different…

  20. Clinical and pathological characteristics and the expression of interleukin-6, interleukin-17 and tumor necrosis factor-α in elderly patients with primary nephrotic syndrome%老年原发性肾病综合征患者临床病理特征及血清中炎性因子的表达

    Institute of Scientific and Technical Information of China (English)

    黄静蓉

    2015-01-01

    目的 探讨原发性肾病综合征老年患者的临床病理特征及血清中白细胞介素-6(IL-6)、白细胞介素-17(IL-17)和肿瘤坏死因子-α(TNF-α)的表达. 方法 选择原发性肾病综合征的老年患者75例为观察组,另选择无明显器质性疾病的老年人40例为对照组,抽取空腹静脉血检测血清中IL-6、IL-17和TNF-α的表达. 结果 75例患者中,有病理资料者67例,其中膜性肾小球肾炎46例,局灶节段性病变5例,系膜毛细血管性肾小球肾炎5例,系膜增生性肾小球肾炎和IgA肾病各3例,肾小球轻微及微小病变、硬化性肾小球肾炎、弥漫性增生性肾小球肾炎、节段增生性肾小球肾炎、轻微肾小球病变各1例.观察组和对照组IL-6、IL-17和TNF-α的表达差异有统计学意义;观察组不同病理特征患者中,IL-6和IL-17的表达差异无统计学意义,TNF-α表达在膜性肾小球肾炎患者中明显高于其他病理类型的患者. 结论 原发性肾病综合征老年患者的病理类型主要是膜性肾小球肾炎;老年肾病综合征患者血清中IL-6、IL-17和TNF-α的表达明显升高,TNF-α在膜性肾小球肾炎中的表达升高更为明显.%Objective To investigate clinical and pathological characteristics and the expression of interleukin (IL)-6, IL-17 and tumor necrosis factor (TNF)-α in elderly patients with primary nephrotic syndrome.Methods A total of 75 elderly cases with primary nephrotic syndrome were chosen as the observation group, and 40 healthy elderly persons served as the control group.Fasting serum IL-6, IL-17 and TNF-α levels were measured by enzyme-linked immunosorbent assay (ELISA) for both groups.Results 67 of the 75 patients received pathological diagnoses, of whom 46 had membranous glomerulonephritis, 5 had focal segmental glomerulosclerosis, 5 had mesangiocapillary glomerulonephritis, 3 had mesangial proliferative glomerulonephritis, 3 had IgA nephropathy, and the rest included one case for each

  1. The Clinical and Neurophysiological Features of Epileptic Syndromes Associated with Benign Focal Epileptiform Discharges of Childhood

    Directory of Open Access Journals (Sweden)

    N. A. Ermolaenko

    2014-01-01

    Full Text Available Benign focal epileptiform discharge of childhood (BFEDC is an age-dependent pattern determined in electroencephalograms (EEGs, which is associated with idiopathic benign focal epilepsy (BFE. Studies of BFE revealed symptomatic phenocopies in patients with cerebral struc- tural abnormalities in such conditions as infantile cerebral palsy and malformations. Some arguments against the «benign» nature of BFEDC are presented, since BFEDC may impair various cognitive functions and behavior (e.g., cause epileptic encephalophathies. Objective. To determine the clinical and neurophysiological features of epileptic syndromes associated with prolonged epileptiform activity during sleep in children and adolescents, as well as approaches to rational therapy. Patients and Methods. A total of 1862 children aged 2–18 admitted to the specialized Department of Psychoneurology of the Voronezh Regional Children Clinical Hospital No 1 in 2004–2007, who had epileptic seizures and non-epileptic neurological disorders, were exam- ined. The children underwent assessment of the neurological status, neuropsychological assessment, and video-EEG monitoring. The spike- wave index (SWI was calculated and magnetic resonance imaging (MRI of the brain was performed to register the epileptiform activity during sleep. Results and Discussion. It was demonstrated that when ISW of BFEDC patterns is >30%, evolution into epileptic encephalopathy was observed in 66% of patients (including epilepsy with electrical status epilepticus in sleep in 49% of patients and cognitive epileptiform disinte- gration in 17% of patients. The results prove the justification of prescribing antiepileptic drugs to patients with SWI ≥30% even if they have no epileptic seizures. Duo-therapy with valproate and ethosuximide or levetiracetam is most the effective therapy. Further prospective studies for children with BFEDC will give new insight into this area. 

  2. Thimerosal-Preserved Hepatitis B Vaccine and Hyperkinetic Syndrome of Childhood

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    David A. Geier

    2016-03-01

    Full Text Available (1 Background: Hyperkinetic syndrome of childhood (HKSoC is an International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9 category in which the majority of the children are also diagnosed under the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision (DSM-IV-TR, where the umbrella term is “Attention-Deficit and Disruptive Behavior Disorders”. The diagnostic criteria for HKSoC are developmentally inappropriate inattention, hyperactivity, and impulsivity. Some studies have implicated mercury (Hg exposure as a risk factor. (2 Methods: This hypothesis testing study; using the Vaccine Safety Datalink; assessed the toxicological effects of bolus exposure to organic-Hg from Thimerosal-containing vaccines (TCVs by examining the relationship between Thimerosal-preserved hepatitis B vaccines (TM-HepB given at varying levels and at specific intervals in the first six months after birth and the risk of a child being diagnosed with HKSoC. (3 Results: Children diagnosed with HKSoC were significantly more likely to be exposed to increased organic-Hg from TM-HepB doses given within the first month (odds ratio = 1.45; 95% confidence interval (CI = 1.30–1.62; within the first two months (odds ratio = 1.43; 95% CI = 1.28–1.59; and within the first six months (odds ratio = 4.51; 95% CI = 3.04–6.71 than controls. (4 Conclusion: The results indicate that increasing organic-Hg exposure from TCVs heightens the risk of a HKSoC diagnosis.

  3. Immunosuppressive treatment for nephrotic idiopathic membranous nephropathy: a meta-analysis based on Chinese adults.

    Directory of Open Access Journals (Sweden)

    Guoqiang Xie

    Full Text Available BACKGROUND: Idiopathic membranous nephropathy (IMN is the most common pathological type for nephrotic syndrome in adults in western countries and China. The benefits and harms of immunosuppressive treatment in IMN remain controversial. OBJECTIVES: To assess the efficacy and safety of different immunosuppressive agents in the treatment of nephrotic syndrome caused by IMN. METHODS: PubMed, EMBASE, Cochrane Library and wanfang, weipu, qinghuatongfang, were searched for relevant studies published before December 2011. Reference lists of nephrology textbooks, review articles were checked. A meta-analysis of randomized controlled trials (RCTs meeting the criteria was performed using Review Manager. MAIN RESULTS: 17 studies were included, involving 696 patients. Calcineurin inhibitors had a better effect when compared to alkylating agents, on complete remission (RR 1.61, 95% CI 1.13, to 2.30 P = 0.008, partial or complete remission (effective (CR/PR, RR 1.29, 95% CI 1.09 to 1.52 P = 0.003, and fewer side effects. Among calcineurin inhibitors, tacrolimus (TAC was shown statistical significance in inducing more remissions. When compared to cyclophosphamide (CTX, leflunomide (LET showed no beneficial effect, mycophenolate mofetil (MMF showed significant beneficial on effectiveness (CR/PR, RR: 1.41, 95% CI 1.16 to 1.72 P = 0.0006 but not significant on complete remission (CR, RR: 1.38, 95% CI 0.89 to 2.13 P = 0.15. CONCLUSIONS: This analysis based on Chinese adults and short duration RCTs suggested calcineurin inhibitors, especially TAC, were more effective in proteinuria reduction in IMN with acceptable side effects. Long duration RCTs were needed to confirm the long-term effects of those agents in nephrotic IMN.

  4. Lymphocyte Subpopulation, Interleukin-2 and High Affinity Interleukin-2 Receptor Expression in Primary Nephrotic Syndrome%原发性肾病综合征患者外周血淋巴细胞亚群、白介素2及其高亲和力受体表达的研究

    Institute of Scientific and Technical Information of China (English)

    付平; 许国章; 黄颂敏; 余庭龙

    2001-01-01

    目的 探讨原发性肾病综合征(PNS)患者发病期及缓解期的细胞免疫状态。方法 分别采用单克隆抗体致敏红细胞检测法、白介素2(IL-2)生物活性检测法和受体的放射性配体结合法,对39例PNS患者及25例正常对照的外周血淋巴细胞亚群、IL-2活性及高亲和力白介素2受体(IL-2R)的表达进行检测。结果 PNS组22例发病期患者的T淋巴细胞(CD3)、辅助淋巴细胞(CD4)、抑制淋巴细胞(CD8)以及IL-2、IL-2R均显著低于对照组(P<0.05);17例缓解期患者的CD3、CD4、IL-2、IL-2R高于发病期组,但低于对照组,且与后两组的上述各项指标均有显著性差异(P<0.05)。结论 PNS患者发病期细胞免疫功能低下,缓解期有所恢复,但仍未达正常水平。缓解期细胞免疫功能低下可能是PNS易于复发的原因之一。%Objective To understand the cellular immune response duringrelapse and remission stage in primary nephrotic syndrome(PNS). Methods We applied the radioligand binding assay (RBA),the bioactivity measurement of IL-2,and monoclonal antibody sensitized red blood cell method to evaluate the expression of IL-2R, the production of IL-2 and T lymphocyte subsets of PBMC from 22 patients suffering from PNS, 17 patients with PNS in remission, and 25 normal subjects matched age and sex. Results CD3,CD4,CD8,IL-2,IL-2R in relapse were significantly lower than those in control (P<0.05); all above except CD8 in remission patients were significantly higher than those in relapse, but lower than those in control (P<0.05).Conclusion This study suggested that the cell mediated immunity (CMI) during acute nephrotic phase decreased; the deficiency of CMI of PNS in remission improved a lot when compared with the acute phase, but still not recovered completely; the deficiency of CMI with PNS in remission might be one of the causes of easily recurring of PNS.

  5. Frequency and clinicopathological correlations of histopathological variants of idiopathic focal segmental glomerulosclerosis in nephrotic adolescents

    International Nuclear Information System (INIS)

    Objective: To determine the frequency and clinicopathological correlations of focal segmental glomerulosclerosis variants in adolescents with idiopathic nephrotic syndrome. Methods: All consecutive adolescents (12 to 18 years) who presented with idiopathic nephrotic syndrome in the period, January 2009 to December 2012, and in whom the histological diagnosis of focal segmental glomerulosclerosis was made on renal biopsies, were included in this prospective study. Their clinical, laboratory and histopathological features at the time of presentation or biopsy were noted from the case files and the biopsy reports. Results: Among 50 adolescents, 34 (68%) were males and 16 (32%) females. The mean age was 15.14+-2.3 years. The mean duration of disease was 6.3+-11.2 months. The mean serum creatinine was 0.96+-0.82 mg/dl. The mean 24-hour urinary protein excretion was 3.8+-0.68 grams. Biopsy indications were steroid-resistant nephritic syndrome in 15 (30%), steroid-dependant nephritic syndrome in 19 (38%) and adolescent nephritic syndrome in 16 (32%) cases. Among the focal segmental glomerulosclerosis variants, 40 (80%) were not otherwise specified, followed by the collapsing variant, which accounted for 8 (16%) cases. The tip and cellular variants, both were found in one (2%) case each. Among the histological features, global glomerulosclerosis was found in 23 (46%) cases, and segmental scarring/collapse in all (100%). A variable degree of tubular atrophy and interstitial fibrosis was noted in 44 (88%) cases. Conclusion: The results from this study indicate that the pattern of focal segmental glomerulosclerosis variants differs markedly in adolescents compared with younger children. (author)

  6. 原发性肾病综合征患儿外周血GRα、GRβ的表达及临床意义%Expression of GRα, GRβ in peripheral blood mononuclear cells in patients with primary nephrotic syndrome and its clinical significance

    Institute of Scientific and Technical Information of China (English)

    邱玲; 封其华; 赵惠君

    2012-01-01

    目的 探讨糖皮质激素受体α(GRα)和β(GRβ)在原发性肾病综合征(PNS)中的作用及其介导耐药的可能机制.方法 选择15例糖皮质激素(GC)敏感型PNS(SSNS)患儿和15例GC耐药型PNS(SRNS)患儿,以及10例健康对照儿童,应用逆转录-聚合酶链式反应(RT-PCR)检测各组外周血单个核细胞(PBMC)中GRα和GRβ mRNA的表达,并分析其与24h尿蛋白定量(24 hUTP)及肾脏病理积分的关系.结果 PNS患儿PBMC中GRα和GRβ均有表达,并以GRα为主;三组间GRα mRNA的表达无差异(P>0.05);而SRNS组GRβ mRNA、GRα/GRβ水平均高于SSNS和对照组(P均<0.05).GRβ mRNA的表达与24 hUTP和病理积分呈正相关(P<0.05),即GRβ mRNA的表达越高,病理积分越高,病理损伤越大.结论 GRβ mRNA可以作为监测PNS患儿病情以及预后的指标.针对SRNS患儿PBMC中GRβ升高,增加激素受体敏感性,有望为SRNS的治疗提供新的思路.%Objective To investigate the expression of glucocorticoid receptor (GR)α, GFβ in peripheral blood mononuclear cells in patients with primary nephrotic syndrome and the possible mechanism of GRα and GRβ mediated the steroid resistance. Methods Fifteen children with glucoeorticoid-sensitive primary nephritic syndrome (SSNS group) , 15 children with glucocortieoid-resistant primary nephritic syndrome (SRNS group) , and 10 healthy children (control group) were recruited. The expression of GRα and GRβ Mrna in peripheral blood mononuclear cells (PMBC) was detected by reverse transcription polymerase chain reaction. The relationship of the expression of GRα and GRβ with 24 h urinary protein and renal pathological score were analyzed. Results Both GRα and GRβ, mainly GRα, were expressed in PMBC in children with primary nephritic syndrome. The expression of GRα Mrna were not significant different among SRNS, SSNS and control groups (P > 0.05). The expression of GRp Mrna and GRα/GRβ Mrna was significantly higher in SRNS group than that

  7. Failure Analysis of Nephrotic Syndrome Pattern Identification by TCM for 23 cases%原发性肾病综合征23例中医辨证失误分析

    Institute of Scientific and Technical Information of China (English)

    邓立武; 欧阳龙

    2010-01-01

    @@ 原发性肾病综合征(Primordial Nephritic Syndrome,PNS)常简称"肾综",中西医结合治疗本病,获得了较好的临床疗效.临床中,常常遇见因中医辨证失误,导致疗效欠佳的情况.兹将我们2003年3月至2008年12月间资料完整的23例病人,就中医辨证失误分析如下.

  8. Erlotinib preserves renal function and prevents salt retention in doxorubicin treated nephrotic rats.

    Directory of Open Access Journals (Sweden)

    Raed N Bou Matar

    Full Text Available Nephrotic syndrome is associated with up-regulation of the heparin-binding epidermal growth factor (HB-EGF. Erlotinib blocks the activation of the epidermal growth factor receptor (EGFR in response to HB-EGF. This study investigates the effect of Erlotinib on the progression of proteinuria, renal dysfunction, and salt retention in doxorubicin treated nephrotic rats. Male rats were divided into 3 pair-fed groups (n = 13/group as follows: Control rats (Ctrl; rats receiving intravenous doxorubicin (Dox; and rats receiving intravenous doxorubicin followed by daily oral Erlotinib (Dox + Erl. Upon establishment of high grade proteinuria, urine sodium and creatinine clearance were measured. Kidney tissue was dissected and analyzed for γ-epithelial sodium channel (γENaC, sodium-potassium -chloride co-transporter 2 (NKCC2, sodium chloride co-transporter (NCC, aquaporin 2 (AQP2, and EGFR abundances using western blot. Creatinine clearance was preserved in the Dox + Erl rats as compared to the Dox group (in ml/min: Ctrl: 5.2±.5, Dox: 1.9±0.3, Dox + Erl: 3.6±0.5. Despite a minimal effect on the degree of proteinuria, Erlotinib prevented salt retention (Urinary Na in mEq/d: Ctrl: 2.2±0.2, Dox: 1.8±0.3, Dox + Erl: 2.2±0.2. The cleaved/uncleaved γENaC ratio was increased by 41±16% in the Dox group but unchanged in the Dox + Erl group when compared to Ctrl. The phosphorylated EGFR/total EGFR ratio was reduced by 74±7% in the Dox group and by 77±4% in the Dox + Erl group. In conclusion, Erlotinib preserved renal function and prevented salt retention in nephrotic rats. The observed effects do not appear to be mediated by direct blockade of EGFR.

  9. Superior oblique tendon (Brown’s syndrome as the presenting finding in childhood onset HLA-B27-related enthesitis and juvenile idiopathic oligoarticular arthritis

    Directory of Open Access Journals (Sweden)

    C. Pham

    2014-11-01

    Full Text Available We report two patients who presented with Brown’s syndrome. The first is a 7-year-old boy who at the time of his diagnosis was also found to have enthesitis and HLA-B27 positivity. The second patient was diagnosed with bilateral Brown’s syndrome at 13 months of age. At age 7 she developed a persistent oligoarticular arthritis and unilateral anterior iritis consistent with the oligoarticular Juvenile Idiopatic Arthritis (JIA phenotype. These cases highlight ophthalmologic findings and diagnostic considerations with respect to Brown’s syndrome and associated childhood onset rheumatologic disease.

  10. Dysaesthesias and dysautonomia: a self-limited syndrome of painful dysaesthesias and autonomic dysfunction in childhood.

    OpenAIRE

    Nass, R.; Chutorian, A

    1982-01-01

    Three children with an acute self-limited syndrome characterised by painful dysaethesias, hypertension, and autonomic dysfunction, in the absence of motor and reflex abnormalities, are presented. They appear to have had a variant of acute polyneuritis involving sensory and autonomic systems. The pathophysiology of hypertension in the Guillain-Barré syndrome and of acute pandysautonomia is discussed. Excessive adrenergic function is considered as a cause of the pain component of the syndrome.

  11. Alström syndrome – an uncommon cause of early childhood retinal dystrophy

    OpenAIRE

    Sheck, Leo; Al-Taie, Rasha; Sharp, Dianne; Vincent, Andrea

    2011-01-01

    Alström syndrome (AS) is a ciliopathy and an uncommon cause of syndromic retinal dystrophy. This case reports findings in a 5-year-old boy with severe early onset retinal dystrophy, and how the recognition of extraocular features with genetic analysis led to the correct diagnosis of AS after 4 years of investigation.

  12. Integrative medicine " three wide" mode effects on patients with nephrotic syndrome disease the extent and effects of anxiety and depression intervention%中西医结合“三全”干预对肾病综合征患者疾病影响程度和焦虑抑郁干预效应

    Institute of Scientific and Technical Information of China (English)

    付百灵

    2014-01-01

    Objective: To observe the effect ofimplementation of " intervention effect Sanquan"intervention on patients of nephrotic syndrome andadverse emotional state. Methods: 200 subjects, randomly divided into observation group and control group with 100 cases in each group, group used the nursing programcontrol to give a systematic holistic nursing care,observation group with integrated traditional Chinese and Western medicine " three all" mode that " all human intervention, and mental intervention and Quan Chengji disease intervention" mode of intervention. Two groups of patients before intervention (the first day of admission) andintervention (after 1 years) scale, self rating Anxiety Scale( SAS) and the disease affects the self rating Depression Scale (SDS) [into the group and post implementationevaluation. The 2 evaluation results were treated statistically (t test)]. Results:the two groups of patients with different mode Before intervention the influence degree of anxiety,depression, disease evaluation scores had no significant difference between the effects of the disease, the impact of different patterns of physical function after intervention(SD-Ⅰ), social and psychological influence (SD-Ⅱ), the 3 dimensions of evaluation score and the anxiety and depression, emotional state, the observation group were lower than those in the control group decreased, compared with the control group and the observation group before and after compared, all have very significant difference(P<0.01) and very significant difference (P < 0. 001). Conclusion: combining traditional Chinese and Western medicine " three" of the intervention model can effectively alleviate the patients with nephrotic syndrome of the emotional state, reduce the disease effect, promote the rehabilitation.%目的:观察实施“三全”干预模式对肾病综合征患者疾病影响程度和不良情绪状态的干预效应。方法:研究对象200例,随机分为观察组和对照组各100例,

  13. Serum osteoprotegerin level in children with nephrotic syndrome and the effect of glucocorticoid on it%肾病综合征患儿血清骨保护素改变及糖皮质激素对其的影响

    Institute of Scientific and Technical Information of China (English)

    李玉柳; 王华

    2012-01-01

    目的 观察肾病综合征( nephrotic syndrome,NS)患儿骨保护素改变及糖皮质激素治疗对骨保护素的影响,探讨骨保护素在NS骨代谢改变中的应用价值.方法 随机选取NS患儿44例,其中NS初发患儿24例,糖皮质激素治疗减量过程中复发患儿20例,其糖皮质激素累积剂量为28327±5879 mg/m2;23例年龄性别匹配的正常儿童设为对照组.采用酶联免疫吸附法测定血清骨保护素浓度,采用电化学发光免疫法测定血清骨钙素N端中分子片段(骨钙素N-MID)含量.结果 初发NS组血清骨保护素、骨钙素N-MID含量分别为211±55 ng/L、46±14 ng/mL,均明显低于对照组(分别为470±57 ng/L、73±9 ng/mL)(P<0.05).NS复发组血清骨保护素、骨钙素N-MID含量均较NS初发组及对照组低,分别为176±42 ng,/L、29±10 ng/mL(P<0.05).结论 NS患儿本身即存在骨代谢异常,大剂量应用糖皮质激素后可进一步加重骨代谢改变,提示NS患儿骨保护素改变受疾病本身及糖皮质激素治疗的双重影响,骨保护素有望成为预测NS患儿骨代谢改变的新型生化指标.%Objective To observe serum osteoprotegerin ( OPG) level in children with nephrotic syndrome ( NS) and changes in serum OPG level after glucocorticoid therapy, with the aim of studying the role of OPG in the bone metabolism of children with NS. Methods Forty-four children with idiopathic NS were randomly selected as the study group, including 24 newly diagnosed, untreated patients and 20 who had relapsed during the process of glucocorticoid reduction (cumulative dose of glucocorticoid 28327 + 5879 mg/m2). Twenty-three age- and sex-matched healthy children served as the control group. Serum osteoprotegerin ( OPG) level was measured using ELISA. Serum N-terminal midfragment of osteocalcin (N-MID osteocalcin) was determined using electrochemical luminescence immunoassays (ECLJA). Results Serum levels of OPG (211 ± 55 ng/L) and N-MID osteocalcin (46 ± 14 ng

  14. Examination of Work Environment Factors Relating to Burnout Syndrome of Early Childhood Educators in Greece

    Science.gov (United States)

    Rentzou, Konstantina

    2012-01-01

    Early childhood education is a profession which requires the professional staff to spend considerable time in intense involvement with other people. The pressure from the demands this profession has can create a sense of physical and emotional exhaustion that often leads to burnout. Thus, previous research has linked perceptions of the work…

  15. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, TB; Nørgaard-Pedersen, B; Lundemose, JB;

    2000-01-01

    Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Australia......,251,027 inhabitants in Denmark, the incidence of venous thromboembolism was 0.9 per 1000 per year in the background population, and less than one-thousandth of these were children. Consequently it is not likely that venous thrombosis is a major cause of sudden infant death syndrome. On the other hand, this does not....... The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life...

  16. Sudden infant death syndrome, childhood thrombosis, and presence of genetic risk factors for thrombosis

    DEFF Research Database (Denmark)

    Larsen, T B; Nørgaard-Pedersen, B; Banner, Jytte;

    2000-01-01

    for thrombosis in the child. This prompted us to investigate these genetic markers of thromboembolic disease in 121 cases of sudden infant death syndrome and in relevant controls, in the expectation of a more frequent occurrence of these markers if thrombosis is an etiological factor in sudden infant......Sudden infant death syndrome or "cot death" has until the late eighties been a significant cause of death in children between the ages of 1 month and 1 year. Approximately two per 1000 children born alive dies of sudden infant death syndrome each year in Western Europe, North America, and Australia....... The vulnerability of the infant brain stem to ischemia has been suggested to be a conceivable cause of sudden infant death syndrome. This is compatible with a hypothesis that genetic risk factors for cerebral thrombosis could cause microinfarction in the brain stem during the first month of life...

  17. Epidemiology of childhood Guillan-Barre syndrome in the north west of Iran

    OpenAIRE

    Karegarmaher Mohammad H; Dastgiri Saeed; Barzegar Mohammad; Varshochiani Ali

    2007-01-01

    Abstract Background and aims This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran. Materials and methods In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital ...

  18. The Clinical and Neurophysiological Features of Epileptic Syndromes Associated with Benign Focal Epileptiform Discharges of Childhood

    OpenAIRE

    N. A. Ermolaenko; I A Buchneva; Zakharova, E. I.

    2014-01-01

    Benign focal epileptiform discharge of childhood (BFEDC) is an age-dependent pattern determined in electroencephalograms (EEGs), which is associated with idiopathic benign focal epilepsy (BFE). Studies of BFE revealed symptomatic phenocopies in patients with cerebral struc- tural abnormalities in such conditions as infantile cerebral palsy and malformations. Some arguments against the «benign» nature of BFEDC are presented, since BFEDC may impair various cognitive functions and behavior (e.g....

  19. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

    OpenAIRE

    Hirvasniemi, A; Lang, H; Lehesjoki, A E; Leisti, J

    1994-01-01

    A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One th...

  20. Therapy-Related Myelodysplastic Syndrome Following Treatment for Childhood Acute Lymphoblastic Leukemia: Outcome of Patients Registered in the EWOG-MDS 98/06 Studies

    DEFF Research Database (Denmark)

    Strahm, Birgitte; Amann, Roland; De Moerloose, Barbara;

    Objective: Therapy-related myelodysplastic syndrome (tMDS) following treatment of childhood acute lymphoblastic leukemia (ALL) is one of the most frequently observed secondary malignancies in survivors of childhood cancer. Allogeneic stem cell transplantation (SCT) is the only curative treatment....... This analysis was performed to asses the outcome of patients with tMDS following treatment for childhood ALL reported to the EWOG-MDS study group. Patients and Transplant Procedure: Forty-three patients (19 male/24 female) were diagnosed with tMDS between August 1989 and August 2009. The median age at diagnosis......, cyclophosphamide and melphalan (Bu/Cy/Mel) (23), an alternative busulfan based regimen (6), a radiation based regimen (5) or others (3). Results: After a median follow up of 4.1 (0.5 – 9.4) years, 14 patients are alive in first complete remission (CR). Seventeen patients developed relapse after a median time...

  1. Epidemiology of childhood Guillan-Barre syndrome in the north west of Iran

    Directory of Open Access Journals (Sweden)

    Karegarmaher Mohammad H

    2007-08-01

    Full Text Available Abstract Background and aims This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran. Materials and methods In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital located in Tabriz city of the East Azarbaijan province covering whole region. Data collected included age, gender, chronological information, preceding events, functional grade of motor deficit. Results The mean age (standard deviation of subjects was 5.4 (3.6 years. The male/female ratio was 1.3. The average annual incidence rate was 2.27 per 100 000 population of 15 years children (CI95%: 1.9–2.6. The majority of cases occurred in March, July and November and the highest proportion of the syndrome was observed in winter (29 percent, P > 0.10. Conclusion The results indicated that an unexpected high incidence of Guillain-Barre syndrome has occurred in 2003 in the region. We concluded that a monitoring and surveillance system for Guillain-Barre syndrome is essential to set up in this region.

  2. Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes

    Science.gov (United States)

    2016-03-16

    Childhood Acute Basophilic Leukemia; Childhood Acute Eosinophilic Leukemia; Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  3. SPASTIC FORM OF CEREBRAL PALSY, EPILEPSY WITH BENIGN EPILEPTIFORM DISCHARGE OF CHILDHOOD ON ELECTROENCEPHALOGRAM, AND IATROGENIC STEVENS–JOHNSON SYNDROME (CASE DESCRIPTION

    Directory of Open Access Journals (Sweden)

    A. S. Kotov

    2016-01-01

    Full Text Available The article describes the phenomenon of dual pathology – a combination of structural changes in the brain and benign epileptiform discharge of childhood on electroencephalogram. The uniqueness lies in the observation that the child, since birth suffering from spastic form of cerebral palsy and severe epilepsy, demonstrated the development of Stevens–Johnson syndrome due to intolerance of one of the antiepileptic drugs. Therapeutic approaches to overcome a whole range of violations are discussed in the article.

  4. Is there an increased risk of metabolic syndrome among childhood acute lymphoblastic leukemia survivors? A developing country experience.

    Science.gov (United States)

    Mohapatra, Sonali; Bansal, Deepak; Bhalla, A K; Verma Attri, Savita; Sachdeva, Naresh; Trehan, Amita; Marwaha, R K

    2016-03-01

    Data on metabolic syndrome (MS) in survivors of childhood acute lymphoblastic leukemia (ALL) from developing countries are lacking. The purpose of this single-center, uncontrolled, observational study was to assess the frequency of MS in our survivors. The survivors of ALL ≤15 years at diagnosis, who had completed therapy ≥2 years earlier, were enrolled. Anthropometric measurements (weight, height, waist circumference), biochemistry (glucose, insulin, triglycerides, high-density lipoprotein [HDL], thyroid function tests, C-reactive protein [CRP], magnesium), measurement of blood pressure, and Tanner staging were performed. MS was defined by International Diabetes Federation (IDF) and the National Cholesterol Education Program Third Adult Treatment Panel guidelines (NCEP ATP III) criteria, modified by Cook et al. (Arch Pediatr Adolesc Med. 2003;157:821-827) and Ford et al. (Diabetes Care. 2005;28:878-881). The median age of 76 survivors was 11.9 years (interquartile range [IQR]: 9.6-13.5). Twenty-four (32%) survivors were obese or overweight. The prevalence of insulin resistance (17%), hypertension (7%), hypertriglyceridemia (20%), and low HDL (37%) was comparable to the prevalence in children/adolescents in historical population-based studies from India. The prevalence of MS ranged from 1.3% to 5.2%, as per different defining criteria. Cranial radiotherapy, age at diagnosis, sex, or socioeconomic status were not risk factors for MS. The prevalence of MS in survivors of childhood ALL, at a median duration of 3 years from completion of chemotherapy, was comparable to the reference population. The prevalence of being obese or overweight was, however, greater than historical controls. PMID:26984439

  5. Ontogeny of polycystic ovary syndrome and insulin resistance in utero and early childhood

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) is a prevalent hyperandrogenic infertility and cardiometabolic disorder that increases a woman's lifetime risk of type 2 diabetes mellitus. It is heritable and intensely familial. Progress toward a cure has been delayed by absence of an etiology. Evidence is mounting...

  6. Family Health and Characteristics in Chronic Fatigue Syndrome, Juvenile Rheumatoid Arthritis, and Emotional Disorders of Childhood.

    Science.gov (United States)

    Rangel, Luiza; Garralda, M. Elena; Jeffs, Jim; Rose, Gillian

    2005-01-01

    Objective: To compare family health and characteristics in children with chronic fatigue syndrome (CFS), in juvenile rheumatoid arthritis (JRA), and emotional disorders. Method: Parents of 28 children and adolescents aged 11 to 18 years with CFS, 30 with JRA, and 27 with emotional disorders (i.e., anxiety and/or depressive disorders) were…

  7. New recurrent deletions in the PPARgamma and TP53 genes are associated with childhood myelodysplastic syndrome

    DEFF Research Database (Denmark)

    Silveira, Cássia G T; Oliveira, Fábio M; Valera, Elvis T; Ikoma, Maura R V; Borgonovo, Tamara; Cavalli, Iglenir J; Tone, Luiz G; Rogatto, Silvia R

    2009-01-01

    Myelodysplastic syndrome (MDS) is a rare hematological malignancy in children. It was performed FISH analysis in 19 pediatric MDS patients to investigate deletions involving the PPARgamma and TP53 genes. Significant losses in the PPARgamma gene and deletions in the tumor suppressor gene TP53 were...

  8. Detection of metabolic syndrome features among childhood cancer survivors: A target to prevent disease

    Directory of Open Access Journals (Sweden)

    Adriana Aparecida Siviero-Miachon

    2008-09-01

    Full Text Available Adriana Aparecida Siviero-Miachon1, Angela Maria Spinola-Castro1, Gil Guerra-Junior21Division of Pediatric Endocrinology, Department of Pediatrics, Federal University of Sao Paulo – UNIFESP/EPM, Brazil; 2Division of Pediatric Endocrinology, Department of Pediatrics, State University of Campinas – FCM/UNICAMP, BrazilAbstract: Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure, drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. In conclusion, some primary and secondary prevention remarks are proposed in order to reduce premature cardiovascular disease risk in this particular group of patients.Keywords: metabolic syndrome X, cardiovascular diseases, insulin resistance, obesity, growth hormone

  9. An overlap syndrome involving autoimmune hepatitis and systemic lupus erythematosus in childhood

    Institute of Scientific and Technical Information of China (English)

    Yusuf Usta; Figen Gurakan; Zuhal Akcoren; Seza Ozen

    2007-01-01

    We report a 12 years old female patient with an overlap syndrome involving autoimmune hepatitis (ALM) and systemic lupus erythematosus (SLE). The patient presented with jaundice, hepatosplenomegaly, malAlse, polyarthralgia, arthritis and butterfly rash on the face. Laboratory tests revealed severe liver dysfunction, Coombs positive hemolytic anemia and a positive ANA/ anti-dsDNA test. Renal biopsy showed class IIA kidney disease, while liver biopsy showed chronic hepatitis with severe inflammatory activity. The patient satisfied the international criteria for both SLE and ALM. Clinical symptoms and laboratory findings of SLE improved with high dose treatment with corticosteroids and azathioprine, however, remission of the liver disease could not be achieved. Repeat biopsy of the liver after three years of therapy revealed ongoing chronic hepatitis with high level of inflammatory activity. The present case indicates that children with liver dysfunction and SLE should be investigated for ALM. There is much diagnostic and therapeutic dilemma in patients with ALH-SLE overlap syndrome.

  10. Childhood Onset of Scheie Syndrome, the Attenuated Form of Mucopolysaccharidosis I

    OpenAIRE

    Thomas, Janet A.; Beck, Michael; Clarke, Joe T. R.; Cox, Gerald Frank

    2010-01-01

    Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder. Only small patient series have previously been reported. Using natural history data from the uniquely large population of 78 Scheie patients enrolled in the MPS I Registry, we characterized the onset and prevalence of clinical manifestations and explored reasons for delayed diagnosis of the disease. Median patient age was 17.5 years; 46% of the patients were...

  11. Mouse model implicates GNB3 duplication in a childhood obesity syndrome

    OpenAIRE

    Goldlust, Ian S.; Hermetz, Karen E.; Catalano, Lisa M.; Barfield, Richard T.; Cozad, Rebecca; Wynn, Grace; Ozdemir, Alev Cagla; Conneely, Karen N.; Mulle, Jennifer G.; Dharamrup, Shikha; Hegde, Madhuri R.; Kim, Katherine H.; Angle, Brad; Colley, Alison; Webb, Amy E.

    2013-01-01

    We describe a genomic disorder that causes obesity, intellectual disability, and seizures. Children with this syndrome carry an unbalanced chromosome translocation that results in the duplication of over 100 genes, including G protein β3 (GNB3). Although GNB3 polymorphisms have been associated with obesity, hypertension, and diabetes, the mechanism of GNB3 pathogenesis is unknown. We created a transgenic mouse model that carries a duplication of GNB3, weighs significantly more than wild-type ...

  12. Acute Childhood Cardiorenal Syndrome and Impact of Cardiovascular Morbidity on Survival

    Directory of Open Access Journals (Sweden)

    Wasiu A. Olowu

    2011-01-01

    Full Text Available Cardiorenal syndrome (CRS clinical types, prevalence, aetiology, and acute cardiovascular morbidity impact on the outcome of acute kidney function perturbation were determined. Forty-seven of 101 (46.53% patients with perturbed kidney function had CRS. Types 3 and 5 CRS were found in 10 and 37 patients, respectively. Type 3 CRS was due to acute glomerulonephritis (AGN; =7, captopril (=1, frusemide (=1, and hypovolaemia (=1. Malaria-associated haemoglobinuria (=20, septicaemia (=11, lupus nephritis (=3, tumour lysis syndrome (=2, and acute lymphoblastic leukaemia (=1 caused Type 5 CRS. The cumulative mortality in hypertensive CRS was similar to nonhypertensive CRS (51.4% versus 40.9%; =.119. Mortality in CRS and non-CRS was similar (45.7% versus 24.5%; =.053. Type 5 survived better than type 3 CRS (66.7% versus 12.5%; =.001. Risk factors for mortality were Type 3 CRS (=.001, AGN-associated CRS (=.023, dialysis requiring CRS (=.008, and heart failure due to causes other than anaemia (=.003. All-cause-mortality was 34.2%. Preventive measures aimed at the preventable CRS aetiologies might be critical to reducing its prevalence.

  13. Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant

    Science.gov (United States)

    2016-02-23

    Accelerated Phase Chronic Myelogenous Leukemia; Blastic Phase Chronic Myelogenous Leukemia; Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Myeloid Leukemia in Remission; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Phase Chronic Myelogenous Leukemia; de Novo Myelodysplastic Syndromes; Disseminated Neuroblastoma; Juvenile Myelomonocytic Leukemia; Previously Treated Childhood Rhabdomyosarcoma; Previously Treated Myelodysplastic Syndromes; Pulmonary Complications; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Recurrent Childhood Large Cell Lymphoma; Recurrent Childhood Lymphoblastic Lymphoma; Recurrent Childhood Rhabdomyosarcoma; Recurrent Childhood Small Noncleaved Cell Lymphoma; Recurrent Neuroblastoma; Recurrent Wilms Tumor and Other Childhood Kidney Tumors; Recurrent/Refractory Childhood Hodgkin Lymphoma; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes

  14. Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization

    Energy Technology Data Exchange (ETDEWEB)

    Arnold, Raoul [University Hospital, Department of Paediatric Cardiology, Heidelberg (Germany); University Hospital, Department of Paediatric Cardiology, Freiburg (Germany); Ley, Sebastian [Department of Radiology, German Cancer Research Centre, Heidelberg (Germany); University Hospital, Department of Paediatric Radiology, Heidelberg (Germany); Ley-Zaporozhan, Julia; Kauczor, Hans-Ulrich [Department of Radiology, German Cancer Research Centre, Heidelberg (Germany); Eichhorn, Joachim; Ulmer, Herbert [University Hospital, Department of Paediatric Cardiology, Heidelberg (Germany); Schenk, Jens-Peter [University Hospital, Department of Paediatric Radiology, Heidelberg (Germany)

    2007-10-15

    After childhood Kawasaki syndrome (KS) the coronary arteries undergo a lifelong dynamic pathological change, and follow-up coronary artery imaging is essential. At present, conventional coronary catheterization (CCC) and angiography is still regarded as the gold standard. Less-invasive methods such as multidetector CT angiography (MDCT-A) and MRI have been used sporadically. To compare the diagnostic quality of MDCT-A and MRI with that of CCC for coronary imaging in a group of patients with coronary artery pathology after childhood KS. A total of 16 patients (aged 5-27 years) underwent CCC and 16-row MDCT-A and 14 patients MRI (1.5 T). There was 100% agreement between MDCT-A and CCC in the detection of coronary aneurysms and stenoses. MDCT-A was superior for the visualization of calcified lesions. MRI and CCC showed 93% agreement for the detection of aneurysms. Visualization of coronary artery stenoses was difficult using MRI - one stenosis was missed. MDCT-A has excellent correlation with CCC regarding all changes affecting the coronary arteries in the follow-up of childhood KS. In comparison to MDCT-A and CCC, MRI is less precise in the detection of stenotic lesions. Due to its high image quality and ease of performance MDCT-A should be the primary diagnostic modality in patients following childhood KS. (orig.)

  15. Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization

    International Nuclear Information System (INIS)

    After childhood Kawasaki syndrome (KS) the coronary arteries undergo a lifelong dynamic pathological change, and follow-up coronary artery imaging is essential. At present, conventional coronary catheterization (CCC) and angiography is still regarded as the gold standard. Less-invasive methods such as multidetector CT angiography (MDCT-A) and MRI have been used sporadically. To compare the diagnostic quality of MDCT-A and MRI with that of CCC for coronary imaging in a group of patients with coronary artery pathology after childhood KS. A total of 16 patients (aged 5-27 years) underwent CCC and 16-row MDCT-A and 14 patients MRI (1.5 T). There was 100% agreement between MDCT-A and CCC in the detection of coronary aneurysms and stenoses. MDCT-A was superior for the visualization of calcified lesions. MRI and CCC showed 93% agreement for the detection of aneurysms. Visualization of coronary artery stenoses was difficult using MRI - one stenosis was missed. MDCT-A has excellent correlation with CCC regarding all changes affecting the coronary arteries in the follow-up of childhood KS. In comparison to MDCT-A and CCC, MRI is less precise in the detection of stenotic lesions. Due to its high image quality and ease of performance MDCT-A should be the primary diagnostic modality in patients following childhood KS. (orig.)

  16. [Electrodiagnostic criteria for childhood Guillain-Barre syndrome. Eight years' experience].

    Science.gov (United States)

    Lopez-Esteban, Pilar; Gallego, Isabel; Gil-Ferrer, Victoria

    2013-03-01

    INTRODUCTION. The Guillan-Barre syndrome is the most frequent case of acute flacid paralysis in children. The diagnostic criteria differ according to the demyelinating or axonal variant and the prevalence by geographical area. The electro-myographic study permits identifying variants, evaluating the prognosis and predicting the evolution, is in addition an objective tool for the monitoring. AIM. To describe the electromyographic characteristics of the Guillain-Barre syndrome evaluated in hospital and its classification by physiopathological pattern. PATIENTS AND METHODS. All the cases diagnosed between 2005 and 2012 are included. Studies of motor and sensitive nervous conduction and F waves in 14 girls and 11 boys between 1 and 13 years of age. RESULTS. 19 cases of acute inflammatory demyelinating polyneuropathy (AIDP) and five of acute motor axonal neuropathy (AMAN) were diagnosed. The electromyogram was performed between 1 and 30 days after the beginning of symptoms. In AIDP cases, multifocal demyelination, four of them with the preserved sural and 13 with alteration and absence of F wave were objectified. In the cases of AMAN, four had low amplitude potential and in one of them they were not evoked. CONCLUSIONS. The demyelinating form of the illness is the most frequent although the high number of AMAN cases stands out, probably related to the population object of study. The evolution was favorable in three cases of motor axonal neuropathy and in 15 accute demyelinating polyneuropathy. In four cases the symptoms became chronic; three of them with persistent demyelination a similar occurrence in other studies with children. PMID:23440755

  17. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

    Science.gov (United States)

    Samango-Sprouse, Carole; Lawson, Patrick; Sprouse, Courtney; Stapleton, Emily; Sadeghin, Teresa; Gropman, Andrea

    2016-05-01

    Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQ's first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patient's near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed. PMID:26833960

  18. Expression of L-FABP in serum, urine and renal tissues in the patients with primary nephrotic syndrome%原发性肾病综合征患者血清、尿肝型脂肪酸结合蛋白的变化及其在肾组织表达的意义

    Institute of Scientific and Technical Information of China (English)

    施婧; 尹忠诚; 唐敏; 杨晶; 张颖; 李胜开

    2014-01-01

    Objective By detecting liver-type fatty acid binding protein (L-FABP) levels in serum, urine and L-FABP expression in renal tissues in patients with primary nephrotic syndrome ( PNS), to investigate its relationship with pathological type and PNS with acute kidney injury (AKI).Methods 45 patients with PNS were divided into 2 groups according to whether they had acute tubular necrosis ( ATN) .There were 37 cases of PNS without ATN and AKI ( PNS without AKI group ) .According to the pathological types , they were further divided into mesangial proliferative glomerolonephritis (MsPGN) group (13 cases), minimal change disease (MCD) group (5 cases), focal segmental glo-merulosclerosis (FSGS) group (9 cases), and membranous nephropathy (MN) group (10 cases).There were 8 cases of PNS with ATN and AKI (PNS with AKI group ) , in which all cases were MCD .Serum and urine of 10 healthy subject who received routine physical checkup and 10 normal renal tissues located far from renal tumor in patients with nephritic tumor served as control groups .The levels of L-FABP in serum and urine were detected by enzyme -linked immunosor-bent assay ( ELISA) .Immunohistochemical staining was used to detect the expression of L -FABP in renal tissues .Re-sults ①The levels of L-FABP in serum and urine and expression of L -FABP in renal tissues in patients with PNS were significantly higher than those of the control group (P0.05).②The serum and urine levels of L-FABP and the expression of L -FABP in renal tissures were enhanced in the PNS with AKI group compared with the PNS without AKI group (P<0.05).③The receiver operator characteristic curve′s area under the curve (ROC-AUC) of serum, urine L-FABP and serum creatinine (SCr) for diagnosis of AKI were 0.910, 0.973, 0.812, respectively.④The serum and urine levels of L -FABP were positively correlated with SCr , blood urea nitrogen (BUN), 24 h urine pro-tein (24hUpro) and expression of L -FABP in renal tissures (r=0.331~0.764, P<0

  19. 强的松治疗对肾病综合征儿童血清IGF-Ⅰ及IGFBPs的影响%Effect of glucocorticoid treatment on insulin like growth factor-Ⅰ and its binding proteins in children with nephrotic syndrome

    Institute of Scientific and Technical Information of China (English)

    董峰; 周湘; 庞宁; 魏珉

    2002-01-01

    目的了解儿童肾病综合征(NS)及糖皮质激素(GC)治疗对血清胰岛素样生长因子-Ⅰ(IGF-Ⅰ)及其结合蛋白(IGFBPs)的影响.方法采用免疫放射法对36名NS患儿,即未治疗的活动期组(ANS,12例),强的松治疗中活动期组(GNS,12例)和缓解期组(RE,12例),进行了血清IGF-Ⅰ及其IGFBPs水平测定,并以同年龄组正常儿童作对照(NC,10例).结果 (1)与正常对照比较,NS活动期血清IGF-Ⅰ和IGFBP-3明显降低(P<0.01),而IGFBP-1和IGFBP-2均明显升高(P<0.01);(2)NS缓解期血清IGF-Ⅰ和IGFBP-3明显高于活动期 (P<0.01),而IGFBP-1和IGFBP-2明显低于活动期(P<0.01);(3)经激素治疗的活动期组血清IGF-Ⅰ和IGFBP-3均明显高于未治疗活动期组(P<0.01),IGFBP-1和IGFBP-2水平也明显低于ANS组(P<0.01);(4)NS活动期血清IGFBP-3与ALB成正相关(r=0.76,P<0.01),血清IGF-Ⅰ与IGFBP-3成正相关, 而与IGFBP-1、IGFBP-2成负相关.在缓解期及激素治疗中的活动期血清IGF-Ⅰ及IGFBPs与ALB及CHO没有相关关系.结论 1)儿童肾病综合征活动期血清IGF-Ⅰ和IGFBPs发生明显改变,这种改变在缓解期可恢复正常.2)糖皮质激素治疗对肾病综合征儿童血清IGF-Ⅰ和IGFBPs有明显影响.3)肾病综合征儿童生长障碍可能与血清IGF-Ⅰ和IGFBPs变化有关.%Objective To identify the changes in serum insulin like growth factor-Ⅰ (IGF-Ⅰ) and IGF binding proteins (IGFBPs) in children with nephrotic syndrome (NS) and the effect of glucocorticoid on serum IGF-Ⅰ and IGFBPs. Methods We measured serum IGF-Ⅰ and IGFBPs levels by radioimmune assay and immune radiomagnetic assay in 36 children with NS, consisting of an active stage group (ANS, n=12), a remission stage group (RE, n=12), an active stage group with glucocorticoid treatment (GNS, n=12), and a normal control group (NC, n=10). Results 1) Compared to NC, serum levels of IGF-Ⅰ and IGFBP-3 were decreased (P<0.01); serum levels of IGFBP-1 and IGFBP-2 were increased (P<0.01) in

  20. Changes of Serum and Urinary IFN-γ, IL-13 and TGF-β1 in Children with Primary Nephrotic Syndrome and Effect of Astragalus%原发性肾病综合征患儿血尿IFN-γ、IL-13、TGF-β1的变化及黄芪的作用

    Institute of Scientific and Technical Information of China (English)

    康国贵; 周江瑾; 张琦; 陈惠琴; 康友群

    2011-01-01

    目的 探讨原性肾病综合征(PNS)患儿血、尿IFN-γ、IL-13、TGF-β1水平的变化及黄芪的干预作用.方法 46例PNS患儿随机分为黄芪治疗组(Ⅰ组,n=24),PNS对照组(Ⅱ组,n=22),观察用药前后血清及尿液IFN-γ、IL-13、 TGF-β1水平及临床转归.健康儿童20例为正常对照组(Ⅲ组).结果 血清 IFN-γ、IL-13水平,入院时Ⅰ、Ⅱ组均显著高于Ⅲ组(P均<0.01);缓解后其水平均虽显著下降(P均<0.01),但I组的下降明显高于Ⅱ组(P均<0.01),与Ⅲ组比较已无显著差异(P均>0.05),而Ⅱ组仍显著高于Ⅲ组(P均>0.05).血清TGF-β1水平入院时Ⅰ、Ⅱ组均显著高于Ⅲ组(P均<0.01);缓解后均显著下降,与Ⅲ组比均已无显著差别(P均>0.05),Ⅰ组与Ⅱ组比较亦无显著差别(P>0.05).尿液IFN-γ、IL-13、TGF-β1水平与血清 IFN-γ、IL-13、TGF-β1水平一样用药前后也发生相同的变化.继发感染率和反复或复发率Ⅰ组均显著低于Ⅱ组(分别为50%比81.8%和33.3%比63.6%,分别χ2=5.123,4.224,P均<0.05).感染后治愈天数Ⅰ组显著少于Ⅱ组(5.0±1 6天比8.0±2天,t=3.066,P<0.005).结论 IFN-γ、IL-13、TGF-β1各细胞因子可能均参与PNS的发病;黄芪对血、尿IFN-γ、IL-13有一定的调节作用.黄芪在佐治SNS中具有预防和降低感染、减少和预防反复或复发、避免反复大量应用激素的作用.%Objective To investigate the changes of interferon - gamma (IFN - γ) , interleukin -13 (IL - 13) and transforming growth factor beta 1 ( TGF - β1 ) in serum and urinary in children with primary nephrotic syndrome ( PNS) and study the effect of astragalus. Methods Forty-six children with PNS were randomly divided into two groups : astragalus granula treatment group( Ⅰ group,n = 24) and prednison control group ( Ⅱ group,n =22) . In addition, 20 healthy children were normal control group( Ⅲ group). The treatment protocol of prednison used for 6 months was administered in two groups, while 15g

  1. The genetics of childhood obesity and interaction with dietary macronutrients

    OpenAIRE

    Garver, William S.; Newman, Sara B.; Gonzales-Pacheco, Diana M.; Castillo, Joseph J.; Jelinek, David; Heidenreich, Randall A.; Orlando, Robert A.

    2013-01-01

    The genes contributing to childhood obesity are categorized into three different types based on distinct genetic and phenotypic characteristics. These types of childhood obesity are represented by rare monogenic forms of syndromic or non-syndromic childhood obesity, and common polygenic childhood obesity. In some cases, genetic susceptibility to these forms of childhood obesity may result from different variations of the same gene. Although the prevalence for rare monogenic forms of childhood...

  2. Clinical, electrophysiological subtypes and antiganglioside antibodies in childhood Guillain-Barré syndrome

    Directory of Open Access Journals (Sweden)

    Meena A Kannan

    2011-01-01

    Full Text Available Background: Guillain-Barré syndrome (GBS has been the most common cause of flaccid paralysis in children after the decline in the incidence of poliomyelitis. There are not any published data from the Indian subcontinent documenting electrophysiological patterns and antiganglioside antibodies in pediatric GBS. Materials and Methods: The study population included children with GBS referred for electrodiagnostic evaluation and also children with GBS admitted to our institute between August 2006 and July 2007. Nerve conduction studies were done to determine GBS subtypes and serum antiganglioside antibodies were measured using enzyme-linked immunosorbent assay (ELISA. Clinical and electrophysiological features were correlated with antiganglioside antibody results. Results: Of the 43 (male to female ratio = 2.1:1 children studied, 97.6% had motor weakness, 76.7% had cranial nerve palsies, 13.9% had autonomic disturbances and respiratory paralysis was found in 9.3% children. Antecedent illness was recorded in 69.8% children. The GBS subtype distribution was as follows: acute inflammatory demyelinating polyradiculoneuropathy (AIDP in 21 (48.8%, acute motor axonal neuropathy (AMAN in 19 (44.2%, and 3 (6.9% children were unclassified. The severity of illness was similar in both AMAN and AIDP subtypes and the recovery in both the subtypes was complete without any significant difference in the duration of recovery. Preceding diarrheal illness was more common in AMAN subtype as compared to AIDP subtype (57.9% vs. 4.7%, P = 0.007. Sensory symptoms were more common in AIDP subtype than in AMAN subtype (66.6% vs. 21%, P = 0.03}. The commonest ganglioside antibody was IgM GM2. Anti GM3 antibodies were exclusively seen in children with AMAN and IgG GD1b was significantly associated with (36.7 vs. 4%; P = 0.007 AMAN subtype. IgG GT1b was identified in 50% of patients with AIDP as compared to 22.7% in patients with AMAN. Conclusion: In this study, AMAN subtype

  3. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  4. Síndrome mielodisplásica na infância Myelodysplastic syndromes in childhood

    Directory of Open Access Journals (Sweden)

    Luiz F. Lopes

    2006-09-01

    ,7%. Quanto à evolução clínica dos pacientes encontramos: óbito em 54,8% dos casos, remissão espontânea em 5,4% e 16,1% encontrava-se em tratamento conservador. Infecções em pacientes com SMD e naqueles que sofreram transformação leucêmica foram as causas mais freqüentes de óbito (58,8%. Propomos também neste artigo uma abordagem de diagnóstico em genética e biologia molecular voltada para os casos infantis assim como uma revisão de literatura sobre transplante de medula óssea para os casos pediátricos, além de outros aspectos que diferem da abordagem feita para pacientes adultos.The Brazilian Cooperative Study Group on Pediatric Myelodysplastic Syndromes (GCB-SMD-PED started in January 1997 with the goal of studying under 18-year-old patients with MDS or suspected MDS from all over the country. Some primary or secondary disorders are incorrectly called MDS. Because of this the GCB-SMD-PED is a referral group in the country to review and also to give diagnostic support (morphology, genetics, etc.. Some groups still use the FAB classification but two new classifications for pediatric cases have been published: one from the Sick Children's Hospital, University of Toronto, Canada the "CCC Classification" (category, cytology and cytogenetic, and the WHO pediatric classification by Hasle et al. Our proposal here is to present data from the 173 pediatric cases which were referred to the GCB-SMD-PED from 15 states (41 centers. From 1983 to 1997, 51 pediatric cases were registered as retrospective cases and from January 1998 to February 2003, 122 prospective cases were registered. From these 173 cases, 93 where confirmed as MDS. In 36.5% of them there was a transformation into acute leukemia with 82.3% as AML and 17.7% as ALL. The follow up showed that 54.8% died, 5.4% had spontaneous remission and 16.1% were in treatment with no chemotherapy (just transfusion or conservative approach. Infections were the primary cause of death (58.8%. Additionally, in this

  5. What Are the Types and Phases of Rett Syndrome?

    Science.gov (United States)

    ... and Publications What are the types & phases of Rett syndrome? Skip sharing on social media links Share this: ... Rett Syndrome (Hanefeld Variant) 6 Late-Childhood Rett Syndrome Forme Fruste Rett Syndrome Preserved-Speech Variant of Rett Syndrome (Zappella ...

  6. Uptake of indium-111 labelled platelets by normal, nephrotic and transplanted kidneys

    Energy Technology Data Exchange (ETDEWEB)

    Desir, G.; Lange, R.; Smith, E.; Bia, M.; Flye, M.; Kashgarian, M.; Canganelli, A.; Ezekowitz

    1984-01-01

    To determine the role of platelets in the genesis of renal transplant (T) rejection, the authors studied 3 groups of adult patients. Group I, n=8, had normal renal function (Cr=1 +- 0.1 mg%, Mean +- SD). Group II, n=9, had nephrotic syndrome (Cr=2.4 +- 1). Group III, n=7, consisted of 5 cadaveric (C) and 2 living related donor (LRD) T. In Group II, 1 patient had received a T 4 years prior to study. Group I and II received 448 +- 101 ..mu..Ci and Group III 236 +- 51 ..mu..Ci of Indium-111. In Groups I and II the first image was obtained 18 +- 6 hrs after injection. In Group II the first was obtained 6 +- 2 hr after injection and 1-3 times/day thereafter for a maximum of 7 days. Renal biopsies were obtained in all patients in Group III during imaging (n=5) or within 2 - 5 days of the last image. One patient was studied twice. In Group III, 5 patients received prednisone and azothiaprine and 2 prednisone and cyclosporine. Platelet uptake index (PUI) was calculated as the ratio of uptake over the T against a reference area. Rejection was diagnosed by biopsy. In groups I and II platelet uptake was seen only in the T patient. In Group III the PUI was 1.54 +- .13 in the rejecting T (n=5), 1.42 +- .2 in the non-rejecting T (n=3), 1.62 in a LRD non-rejecting T and 1.31 (n=2) in C non-rejecting T. In the four patients studied within 5 days of T the PUI was elevated at 1.47 +- .1. The authors conclude that: 1) platelets do not accumulate in normal or nephrotic native kidneys, 2) significant uptake occurs in the first week after C and LRD whether or not rejection is present, and 3) uptake in non-rejecting kidneys cannot be ascribed to perfusion induced endothelial injury since it was present in LRD transplants.

  7. Uptake of indium-111 labelled platelets by normal, nephrotic and transplanted kidneys

    International Nuclear Information System (INIS)

    To determine the role of platelets in the genesis of renal transplant (T) rejection, the authors studied 3 groups of adult patients. Group I, n=8, had normal renal function (Cr=1 +- 0.1 mg%, Mean +- SD). Group II, n=9, had nephrotic syndrome (Cr=2.4 +- 1). Group III, n=7, consisted of 5 cadaveric (C) and 2 living related donor (LRD) T. In Group II, 1 patient had received a T 4 years prior to study. Group I and II received 448 +- 101 μCi and Group III 236 +- 51 μCi of Indium-111. In Groups I and II the first image was obtained 18 +- 6 hrs after injection. In Group II the first was obtained 6 +- 2 hr after injection and 1-3 times/day thereafter for a maximum of 7 days. Renal biopsies were obtained in all patients in Group III during imaging (n=5) or within 2 - 5 days of the last image. One patient was studied twice. In Group III, 5 patients received prednisone and azothiaprine and 2 prednisone and cyclosporine. Platelet uptake index (PUI) was calculated as the ratio of uptake over the T against a reference area. Rejection was diagnosed by biopsy. In groups I and II platelet uptake was seen only in the T patient. In Group III the PUI was 1.54 +- .13 in the rejecting T (n=5), 1.42 +- .2 in the non-rejecting T (n=3), 1.62 in a LRD non-rejecting T and 1.31 (n=2) in C non-rejecting T. In the four patients studied within 5 days of T the PUI was elevated at 1.47 +- .1. The authors conclude that: 1) platelets do not accumulate in normal or nephrotic native kidneys, 2) significant uptake occurs in the first week after C and LRD whether or not rejection is present, and 3) uptake in non-rejecting kidneys cannot be ascribed to perfusion induced endothelial injury since it was present in LRD transplants

  8. Methylation of BDNF in women with bulimic eating syndromes: associations with childhood abuse and borderline personality disorder.

    Science.gov (United States)

    Thaler, Lea; Gauvin, Lise; Joober, Ridha; Groleau, Patricia; de Guzman, Rosherrie; Ambalavanan, Amirthagowri; Israel, Mimi; Wilson, Samantha; Steiger, Howard

    2014-10-01

    DNA methylation allows for the environmental regulation of gene expression and is believed to link environmental stressors to such mental-illness phenotypes as eating disorders. Numerous studies have shown an association between bulimia nervosa (BN) and variations in brain-derived neurotrophic factor (BDNF). BDNF has also been linked to borderline personality disorder (BPD) and to such traits as reward dependence. We examined the extent to which BDNF methylation corresponded to bulimic or normal-eater status, and also to the presence of comorbid borderline personality disorder (BPD) and childhood abuse. Our sample consisted of 64 women with BN and 32 normal-eater (NE) control women. Participants were assessed for eating-disorder symptoms, comorbid psychopathology, and childhood trauma, and then they were required to provide blood samples for methylation analyses. We observed a significant site×group (BN vs. NE) interaction indicating that women with BN showed increases in methylation at specific regions of the BDNF promoter. Furthermore, examining effects of childhood abuse and BPD, we observed significant site×group interactions such that groups composed of individuals with childhood abuse or BPD had particularly high levels of methylation at selected CpG sites. Our findings suggest that BN, especially when co-occurring with childhood abuse or BPD, is associated with a propensity towards elevated methylation at specific BDNF promoter region sites. These findings imply that hypermethylation of the BDNF gene may be related to eating disorder status, developmental stress exposure, and comorbid psychopathology. PMID:24801751

  9. White matter change on CT associated with superior vena cava syndrome: a case report

    International Nuclear Information System (INIS)

    An 11-year-old Japanese girl with nephrotic syndrome developed superior vena cava syndrome associated with hypercoagulability and an indwelling catheter. Cranial CT revealed diffuse low-density lesions in paraventricular white matter. Thrombectomy brought prompt relief of symptoms and correction of CT abnormalities. (orig.)

  10. White matter change on CT associated with superior vena cava syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Fukuda, M. (Department of Nephrology, Metropolitan Kiyose Children' s Hospital, Tokyo (Japan)); Nagai, T. (Department of Neurology, Metropolitan Kiyose Children' s Hospital, Tokyo (Japan)); Kamiyama, Y. (Department of Nephrology, Metropolitan Kiyose Children' s Hospital, Tokyo (Japan)); Kawamura, K. (Department of Nephrology, Metropolitan Kiyose Children' s Hospital, Tokyo (Japan)); Kawahara, K. (Department of Nephrology, Metropolitan Kiyose Children' s Hospital, Tokyo (Japan)); Honda, M. (Department of Nephrology, Metropolitan Kiyose Children' s Hospital, Tokyo (Japan))

    1993-03-01

    An 11-year-old Japanese girl with nephrotic syndrome developed superior vena cava syndrome associated with hypercoagulability and an indwelling catheter. Cranial CT revealed diffuse low-density lesions in paraventricular white matter. Thrombectomy brought prompt relief of symptoms and correction of CT abnormalities. (orig.)

  11. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine; Ravn, Kirstine; Brøndum-Nielsen, Karen; Bisgaard, Anne-Marie; Tümer, Zeynep

    2015-01-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities....... Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21...... spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is thereforepossible that deletion of CDCA5 may account for some of the CdLS like features of the present case....

  12. Visualization of podocyte substructure with structured illumination microscopy (SIM): a new approach to nephrotic disease.

    Science.gov (United States)

    Pullman, James M; Nylk, Jonathan; Campbell, Elaine C; Gunn-Moore, Frank J; Prystowsky, Michael B; Dholakia, Kishan

    2016-02-01

    A detailed microscopic analysis of renal podocyte substructure is essential to understand and diagnose nephrotic kidney disease. Currently only time consuming electron microscopy (EM) can resolve this substructure. We used structured illumination microscopy (SIM) to examine frozen sections of renal biopsies stained with an immunofluorescence marker for podocin, a protein localized to the perimeter of the podocyte foot processes and compared them with EM in both normal and nephrotic disease biopsies. SIM images of normal glomeruli revealed curvilinear patterns of podocin densely covering capillary walls similar to podocyte foot processes seen by EM. Podocin staining of all nephrotic disease biopsies were significantly different than normal, corresponding to and better visualizing effaced foot processes seen by EM. The findings support the first potential use of SIM in the diagnosis of nephrotic disease. PMID:26977341

  13. Use of the Childhood Autism Rating Scale (CARS) for Children with High Functioning Autism or Asperger Syndrome

    Science.gov (United States)

    Mayes, Susan Dickerson; Calhoun, Susan L.; Murray, Michael J.; Morrow, Jill D.; Yurich, Kirsten K. L.; Cothren, Shiyoko; Purichia, Heather; Mahr, Fauzia; Bouder, James N.; Petersen, Christopher

    2012-01-01

    The authors of the "Childhood Autism Rating Scale" (CARS) state in the manual that the best cutoff score for distinguishing low functioning autism (LFA) from intellectual disability is 30 for children and 28 for adolescents and adults. This study determined that a cutoff score of 25.5 was most accurate in differentiating between high functioning…

  14. A Case of Childhood Vitrectomy Performed for Dense Vitreous Hemorrhage Secondary to Leukemia Therapy and Tumor Lysis Syndrome

    OpenAIRE

    Kudo, Takashi; Suzuki, Yukihiko; Metoki, Tomomi; Nakazawa, Mitsuru

    2015-01-01

    Purpose To report a case of vitrectomy performed in a child with dense massive vitreous hemorrhage due to secondary acute myelogenous leukemia (AML) and tumor lysis syndrome. Case A 4-year-old boy with clear-cell renal cell carcinoma was successfully treated with chemotherapy in 2011. However, in May 2012, he developed secondary AML. Although he was treated with combined chemotherapy and radiation, tumor lysis syndrome occurred with renal and heart failure complications. After an ultrasound e...

  15. An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

    Science.gov (United States)

    Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.

    2009-01-01

    Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…

  16. Fine-Motor Skill Deficits in Childhood Predict Adulthood Tic Severity and Global Psychosocial Functioning in Tourette's Syndrome

    Science.gov (United States)

    Bloch, Michael H.; Sukhodolsky, Denis G.; Leckman, James F.; Schultz, Robert T.

    2006-01-01

    Background: Most children with Tourette's syndrome (TS) experience a significant decline in tic symptoms during adolescence. Currently no clinical measures have been identified that can predict whose tic symptoms will persist into adulthood. Patients with TS have deficits on neuropsychological tests involving fine-motor coordination and…

  17. Nephrotic-range proteinuria in an eight-year-old traveler with severe dengue: Case report and review of the literature.

    Science.gov (United States)

    Hebbal, Pooja; Darwich, Yamil; Fong, Jane; Hagmann, Stefan H F; Purswani, Murli U

    2016-01-01

    We report a case of an eight-year-old male, native of the Dominican Republic, who visited the U.S. and was admitted to a pediatric intensive care unit with severe dengue. He needed aggressive fluid management for dengue shock syndrome and developed proteinuria on the sixth day of his illness, shortly after his nadir thrombocytopenia. His proteinuria peaked on the eight day, and reduced to trace levels by the tenth day of his illness, coinciding with normalization of his platelet count. His highest random urine protein/creatinine ratio was in the nephrotic range, at 3.9 g/g. Dengue fever can cause a wide spectrum of acute kidney injury (AKI), ranging in incidence from 0.9 to 36%. Review of the literature shows that nephrotic-range proteinuria is an uncommon complication of AKI caused by dengue, reported thus far only in Southeast Asia. Immune-mediated mechanisms may explain the observed association between dengue-induced thrombocytopenia and severe proteinuria, in this case, and previously reported cases. Dengue virus infection is the commonest mosquito-borne disease in the world with substantial morbidity and mortality. Well-designed prospective studies are needed to further characterize the extent and mechanisms of AKI in populations living in countries with ongoing transmission, as well as in those with travel-associated disease. PMID:26874782

  18. Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: Implications for Pierson syndrome

    OpenAIRE

    Miner, Jeffrey H.; Go, Gloriosa; Cunningham, Jeanette; Patton, Bruce L.; Jarad, George

    2006-01-01

    Pierson syndrome is a recently defined disease usually lethal within the first postnatal months and caused by mutations in the gene encoding laminin β2 (LAMB2). The hallmarks of Pierson syndrome are congenital nephrotic syndrome accompanied by ocular abnormalities, including microcoria (small pupils), with muscular and neurological developmental defects also present. Lamb2−/− mice are a model for Pierson syndrome; they exhibit defects in the kidney glomerular barrier, in the development and o...

  19. Childhood obesity.

    Science.gov (United States)

    Han, Joan C; Lawlor, Debbie A; Kimm, Sue Y S

    2010-05-15

    Worldwide prevalence of childhood obesity has increased greatly during the past three decades. The increasing occurrence in children of disorders such as type 2 diabetes is believed to be a consequence of this obesity epidemic. Much progress has been made in understanding of the genetics and physiology of appetite control and from these advances, elucidation of the causes of some rare obesity syndromes. However, these rare disorders have so far taught us few lessons about prevention or reversal of obesity in most children. Calorie intake and activity recommendations need reassessment and improved quantification at a population level because of sedentary lifestyles of children nowadays. For individual treatment, currently recommended calorie prescriptions might be too conservative in view of evolving insight into the so-called energy gap. Although quality of research into both prevention and treatment has improved, high-quality multicentre trials with long-term follow-up are needed. Meanwhile, prevention and treatment approaches to increase energy expenditure and decrease intake should continue. Recent data suggest that the spiralling increase in childhood obesity prevalence might be abating; increased efforts should be made on all fronts to continue this potentially exciting trend. PMID:20451244

  20. The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome.

    Science.gov (United States)

    Muldoon, Meghan; Ousley, Opal Y; Kobrynski, Lisa J; Patel, Sheena; Oster, Matthew E; Fernandez-Carriba, Samuel; Cubells, Joseph F; Coleman, Karlene; Pearce, Bradley D

    2015-09-01

    22q11 deletion syndrome (22qDS), also known as DiGeorge syndrome, is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia, learning disabilities, and psychiatric disorders. Many patients with 22q11DS present with signs that overlap with autism spectrum disorder (ASD) yet the possible physiological mechanisms that link 22q11DS with ASD are unknown. We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS. Drawing on a longitudinal cohort of 22q11DS patients, we abstracted albumin-adjusted serum calcium levels from 151 participants ranging in age from newborn to 19.5 years (mean 2.5 years). We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC). The mean (SD) age at calcium testing was 6.2 (8.5) months, whereas the mean (SD) age at the CSBS-DP ITC assessment was 14.7 (3.8) months. Lower calcium was associated with significantly greater impairment in the CSBS-DP ITC Social (p < 0.05), Speech (p < 0.01), and Symbolic domains (p < 0.05), in regression models adjusted for sex, age at blood draw, and age at the psychological assessment. Nevertheless, these findings are limited by the small sample size of children with combined data on calcium and CSBS-DP ITC, and hence will require replication in a larger cohort with longitudinal assessments. Considering the role of calcium regulation in neurodevelopment and neuroplasticity, low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomes. PMID:25267002

  1. Epstein-Barr virus (EBV) infects T lymphocytes in childhood EBV-associated hemophagocytic syndrome in Taiwan.

    OpenAIRE

    Su, I J; Chen, R. L.; Lin, D.T.; Lin, K S; Chen, C C

    1994-01-01

    We have reported the prevalence of a fulminant hemophagocytic syndrome (HS) in previously healthy young children in Taiwan, most of which probably represent a lethal form of primary or active Epstein-Barr virus (EBV) infection. To further confirm their EBV association, in situ EBV hybridization (ISH) was performed on tissue biopsies from 15 pediatric HS patients (median age, 3 years and 4 months) using digoxigenin-labeled RNA probes EBER1. Double labeling immunostaining and ISH was then perfo...

  2. Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Philippe, A.; Malan, V.; De Blois, M.C.; Colleaux, L.; Munnich, A. [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Natl Inst Hlth and Med Res, Paris (France); Philippe, A.; De Blois, M.C.; Colleaux, L.; Munnich, A. [HopNecker Enfants Malad, Assistance Publ Hop Paris, Dept Genet, Paris (France); Boddaert, N. [Natl Inst Hlth and Med Res, Mixed Unit Res 0205, Orsay (France); Vaivre-Douret, L.; Robel, L.; Golse, B. [Hop Necker Enfants Malad, Assistance Publ Hop Paris, Dept Psychiat, Paris (France); Vaivre-Douret, L. [Univ Paris 10, Mixed Unit Res S0669, Univ Paris 05, Univ Paris 11, Paris 10 (France); Vaivre-Douret, L. [Assistance Publ Hop Paris, Dept Obstet et Gynaecol, Paris (France); Danon-Boileau, L. [Natl Ctr Sci Res, Mixed Unit Res 7114, Paris (France); Heron, D. [Hop La Pitie Salpetriere, Assistance Publ HopParis, Dept Genet, Paris (France)

    2008-07-01

    The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

  3. Cholecystitis in a child with acquired immunodeficiency syndrome: ultrasonographic findings in a case of uncommon presentation during childhood

    International Nuclear Information System (INIS)

    We present the case of a boy with acquired immunodeficiency syndrome (AIDS) in whom ultrasound revealed the presence of a calculous cholecystitis. Abdominal ultrasound was essential in the initial diagnosis and the assessment of the response to treatment. This entity has rarely been reported in the pediatric radiology literature. In our patient, the cholecystitis may have been caused by infection, and the involvement of regional lymphatic obstruction in the pathogenesis is considered. (Author) 14 refs

  4. Neuro-behavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

    International Nuclear Information System (INIS)

    The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neuro-developmental disorder that includes hypotonia, severely impaired development of speech and language, autistic-like behavior, and minor dysmorphic features. Although the number of reported cases is increasing, the 22q13.3 deletion remains under-diagnosed because of failure in recognizing the clinical phenotype and detecting the 22qter deletion by routine chromosome analyses. Our goal is to contribute to the description of the neuro-behavioral phenotype and brain abnormalities of this micro-deletional syndrome. We assessed neuro-motor, sensory, language, communication, and social development and performed cerebral MRI and study of regional cerebral blood flow measured by positron emission tomography in 8 children carrying the 22q13.3 deletion. Despite variability in expression and severity, the children shared a common developmental profile characterized by hypotonia, sleep disorders, and poor response to their environment in early infancy; expressive language deficit contrasting with emergence of social reciprocity from ages similar to 3 to 5 years; sensory processing dysfunction; and neuro-motor disorders. Brain MRI findings were normal or showed a thin or morphologically atypical corpus callosum. Positron emission tomography study detected a localized dysfunction of the left temporal polar lobe and amygdala hypoperfusion. The developmental course of the 22q13.3 deletion syndrome belongs to pervasive developmental disorders but is distinct from autism. An improved description of the natural history of this syndrome should help in recognizing this largely under-diagnosed condition. (authors)

  5. 儿童布-力口综合征三例%Childhood Budd-Chiari syndrome in 3 cases

    Institute of Scientific and Technical Information of China (English)

    傅宏娜; 刘风林

    2008-01-01

    @@ 布-加综合征(Budd-Chiari syndrome,BCS)是一种可以危及生命,临床少见的疾病.在远东或亚洲地区(日本、中国和东南亚地区)发病率较高,发病年龄多集中在20~40岁[1].儿童BCS的报道在国内外少见,而2岁以下的BCS更是罕见.

  6. De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

    Science.gov (United States)

    Ohba, Chihiro; Nabatame, Shin; Iijima, Yoshitaka; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Tanaka, Fumiaki; Ozono, Keiichi; Saitsu, Hirotomo; Matsumoto, Naomichi

    2014-05-01

    Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations. PMID:24621584

  7. [Non-autistic pervasive developmental disorders: Rett syndrome, disintegrative disorder and pervasive developmental disorder not otherwise specified

    NARCIS (Netherlands)

    Mercadante, M.T.; Gaag, R.J. van der; Schwartzman, J.S.

    2006-01-01

    The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative

  8. Kindler syndrome

    OpenAIRE

    Kaviarasan P; Prasad P; Shradda; Viswanathan P

    2005-01-01

    Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderm...

  9. 儿童Jeavons综合征4例报告%Four cases report of Jeavons syndrome in childhood

    Institute of Scientific and Technical Information of China (English)

    徐哲峰; 刘占利; 黄先玫; 蒋春明; 陈丽琼

    2014-01-01

    目的:探讨儿童Jeavons综合征的临床、脑电图特征及药物治疗效果。方法回顾性分析4例儿童Jeavons综合征患儿的临床、脑电图特征及治疗效果等临床资料。结果4例患儿中女性3例、男性1例,起病年龄1~6岁。临床表现为反复特征性眼睑肌阵挛,伴或不伴失神发作。视频脑电图(VEEG)监测发作期脑电图,2例为全导对称同步3~6 Hz棘慢波或多棘慢波阵发,以闭眼诱发明显;2例为全导3.0~3.5 Hzδ节律发放。采用丙戊酸治疗2例、左乙拉西坦1例、丙戊酸联合左乙拉西坦1例。结果发作控制1例,发作减轻2例,发作仍频繁1例。结论 Jeavons综合征是一种特发性全面性癫综合征,发作主要为眼睑肌阵挛伴或不伴失神。VEEG对明确诊断有重要价值,丙戊酸钠或左乙拉西坦对控制发作有效。%Objective To explore the clinical manifestations, electroencephalographic characteristics and therapeutic effect of drugs in children with Jeavons syndrome. Methods The clinical and electroencephalographic characteristics and thera-peutic effect of drugs were analyzed in 4 children with Jeavons syndrome. Results Among the four children there were 3 female and 1 male. The age at the onset of the disease was from 1 to 6 years. The typical clinical manifestations of this disease were brief, fast and repeated eyelid myoclonia (EM) with or without absence seizure. The typical electroencephalography (EEG) in two patients showed 3-6 Hz generalized spike and waves and polyspikes burst, and the eye closure and intermittent photic stimu-lation helped to induce discharges and clinical events. The typictal EEG in the other two patients showed 3.0-3.5 Hz generalizedδslow wave rhythm burst. The drugs of choice for treatment was sodium valproate monotherapy in two cases, levetiracetam in one case, sodium valproate combined with levetiracetam in one case. During the follow-up, seizures were controlled in one case

  10. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  11. Cranial nerve palsies in childhood

    OpenAIRE

    Lyons, C J; Godoy, F; ALQahtani, E

    2015-01-01

    We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after injury. Thus, aberrant regeneration is very common after congenital III palsy; Duane syndrome, the result of early repair after congenital VI palsy, is invariably associated with retraction of the g...

  12. 小儿急性偏瘫综合征%Study on acute hemiplegia syndrome in childhood

    Institute of Scientific and Technical Information of China (English)

    王纪文

    2004-01-01

    小儿急性偏瘫综合征(acute hemiplegia syndrome in childhood.AHS)早在1897年即由Sigmund Freud详细描述,直到1960年以后才有较多报道。小儿急性偏瘫是由多种原因引起的以急性一侧肢体瘫痪为主要表现的临床综合征,目前该诊断名词倾向于只用于未找到特异原闪的急性偏瘫,其他则可用更为明确的诊断如:脑动脉血栓形成等代替,本文仍延用以往文献称谓,泛指上述情况。美国有学者调查15岁以下儿童中,脑卒中引起的急性偏瘫为2.48/万。国内尚缺乏流行病学方面的调查。其发病机制主要是脑血流灌注不足,导致局部脑组织缺血、坏死累及锥体束的功能。

  13. Childhood Leukemia

    Science.gov (United States)

    ... cells. It is the most common type of childhood cancer. Your blood cells form in your bone ... in the bones or joints Risk factors for childhood leukemia include having a brother or sister with ...

  14. Childhood Stress

    Science.gov (United States)

    ... 5 Things to Know About Zika & Pregnancy Childhood Stress KidsHealth > For Parents > Childhood Stress Print A A ... and feel stress to some degree. Sources of Stress Stress is a function of the demands placed ...

  15. Childhood Obesity

    OpenAIRE

    Wilkinson, Justine; Howard, Simon

    2014-01-01

    Childhood obesity has important consequences for health and wellbeing both during childhood and also in later adult life. The rising prevalence of childhood obesity poses a major public health challenge in both developed and developing countries by increasing the burden of chronic non-communicable diseases. Despite the urgent need for effective preventative strategies, there remains disagreement over its definition due to a lack of evidence on the optimal cut-offs linking childhood BMI to dis...

  16. Childhood Cancer

    Science.gov (United States)

    ... Story" 5 Things to Know About Zika & Pregnancy Childhood Cancer KidsHealth > For Parents > Childhood Cancer Print A A A Text Size What's ... in children, but can happen. The most common childhood cancers are leukemia , lymphoma , and brain cancer . As ...

  17. Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome

    Science.gov (United States)

    2013-01-15

    Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  18. Efecto del micofenolato mofetil (MMF en el síndrome nefrótico idiopático (SNI en niños, resistente a otros tratamientos Micophenolate mofetil (MMF in the idiopathic nephrotic syndrome (SNI resistantance to different treatments

    Directory of Open Access Journals (Sweden)

    José William Cornejo Ochoa

    2006-01-01

    Full Text Available El intento para disminuir los efectos adversos del uso prolongado y de las grandes dosis de esteroides en el tratamiento del síndrome nefrótico idiopático (SNI corticodependiente o corticoresistente, justifica el uso de inmunosupresores, muchos de los cuales también causan efectos adversos además de producir respuestas variables. El objetivo de este trabajo fue la evaluación retrospectiva de la evolución clínica y de los parámetros de laboratorio en 11 pacientes con SNI (siete corticoresistentes y cuatro corticodependientes, luego de seis meses de tratamiento con MMF. El diagnóstico histopatológico fue glomeruloesclerosis focal y segmentarias (GEFS en ocho pacientes, glomerulonefritis membranosa (GNM en dos y glomerulonefritis membranoproliferativa tipo II (GNMP en uno. El promedio de edad de inicio del SNI fue de 7,8 años (rango 2-14, y el de la edad al inicio del MMF fue de 9,9 años (rango 2,5-16. El MMF se administró en una dosis promedio de 406 mg/m2/12h (rango 186,5-600. Se encontró respuesta parcial al MMF en 4 pacientes y completa en 1; igualmente se observó tendencia a mejor control de la hipertensión arterial y resolución de edemas, manteniendo una función renal estable. The attempt to diminish the adverse effects of the prolonged use and the great doses of steroids in the treatment of the idiopathic nephritic syndrome (SNI with dependency and/or resistance to steroids, justifies the use of immunosuppressive drug, many of these with variable answers and also adverse effects. The objective of this work was to evaluate the clinical evolution and of the laboratory parameters in the patients with SNI to the 6 months of treatment with Mycophenolate mofetil. The trial included 11 patients with SNI, 7 with resistance and 4 with dependency to steroids, the histopathology diagnosis were: 8 focal and segmental glomeruloesclerosis (GEFS, 2 membranous glomerulonephritis (GNM, 1 membranoproliferative type II glomerulonephritis

  19. Hypertriglyceridemia Thalassemia Syndrome: A Report of 4 Cases

    OpenAIRE

    Khera, Rachna; Singh, Meeta; Goel, Garima; Gupta, Parul; Singh, Tejinder; A P Dubey

    2014-01-01

    Hypertriglyceridemia in children can be familial or acquired. Acquired forms of hypertriglyceridemia in children may be associated with several other diseases obesity, diabetes mellitus, uremia/dialysis, hypothyroidism, nephrotic syndrome, drugs etc. Hypertriglyceridemia with β-thalassemia major is an association of unknown pathogenesis which is rarely described in the literature but is important to recognize, for the prevention of complications and proper management of thalassemic children.

  20. A low-protein diet restricts albumin synthesis in nephrotic rats.

    OpenAIRE

    Kaysen, G A; Jones, H.; Martin, V.; Hutchison, F N

    1989-01-01

    High-protein diets increase albumin synthesis in rats with Heymann nephritis but albuminuria increases also, causing serum albumin concentration to be suppressed further than in nephrotic animals eating a low-protein diet. Experiments were designed to determine whether dietary protein augmentation directly stimulates albumin synthesis, or whether instead increased albumin synthesis is triggered by the decrease in serum albumin concentration. Evidence is presented that dietary protein augmenta...

  1. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  2. Joubert syndrome

    International Nuclear Information System (INIS)

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  3. Childhood Obesity

    OpenAIRE

    Aydın, Ahmet; Koca, Fahrettin; Fıçıcıoğlu, Can; Çam, Halit; Mıkla, Şerare

    1995-01-01

    Management of childhood obesity and its early and late complications are among the most difficult problems confronted by pediatricians and practitioners The purpose of this review is to provide information for the evaluation and treatment of childhood obesity Key nbsp;words: nbsp;Child Obesity Etiology Management Complications

  4. Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes

    DEFF Research Database (Denmark)

    Magnusson, S.; Borg, A.; Kristoffersson, U.; Nilbert, M.; Wiebe, T.; Olsson, H.; Magnusson, Susanne; Borg, Ake; Kristoffersson, Ulf; Nilbert, Mef; Wiebe, Thomas; Olsson, Håkan

    2008-01-01

    The contribution of hereditary factors for development of childhood tumors is limited to some few known syndromes associated with predominance of tumors in childhood. Occurrence of childhood tumors in hereditary cancer syndromes such as BRCA1/2 associated breast and ovarian cancer, DNA-mismatch r...

  5. The role of liver in leptin metabolism in experimental nephrotic syndrome

    OpenAIRE

    Ahmed, Mohamed Mahmoud; Amin, Ahmed Ibrahim; Fahmi, Abdelgawad Ali; Habib, Dawoud Fakhry; Kholousy, Naglaa Mohamed; Shalaby, Mostafa; Shanab, Asem Metwally Abo

    2012-01-01

    Leptin is a hormone influencing food intake, energy expenditure and body weight. It is pro-duced by adipocytes, exerts its effects on brain, endocrine pancreas and other organs by acti-vating trans-membrane receptors and is cleared from plasma mainly by the kidneys. Several studies have suggested that leptin's effects on metabolism are mediated by the liver. Our aim was to evaluate the role of the liver in the metabolism of leptin by comparing the serum leptin level in the portal vein with th...

  6. Comparison of three methods for isolation of urinary microvesicles to identify biomarkers of nephrotic syndrome.

    NARCIS (Netherlands)

    Rood, I.M.; Deegens, J.K.J.; Merchant, M.L.; Tamboer, W.P.M.; Wilkey, D.W.; Wetzels, J.F.M.; Klein, J.B.

    2010-01-01

    Urinary microvesicles, such as 40-100 nm exosomes and 100-1000 nm microparticles, contain many proteins that may serve as biomarkers of renal disease. Microvesicles have been isolated by ultracentrifugation or nanomembrane ultrafiltration from normal urine; however, little is known about the efficie

  7. Early Markers of Tubulointerstitial Fibrosis in Children With Idiopathic Nephrotic Syndrome

    OpenAIRE

    Bieniaś, Beata; Zajączkowska, Małgorzata; Borzęcka, Halina; Sikora, Przemysław; Wieczorkiewicz-Płaza, Anna; Wilczyńska, Barbara

    2015-01-01

    Abstract Tubulointerstitial fibrosis and tubular atrophy play a crucial role in the pathogenesis of chronic kidney disease (CKD). They are also major determinants in chronic kidney disease development and progression in patients with primary renal diseases characterized by persistent or recurrent proteinuria. The purpose of the study was to assess urinary excretion of alpha-glutathione S-transferase (alpha-GST), pi-glutathione S-transferase (pi-GST), neutrophil gelatinase-associated lipocalin...

  8. Is biopsy required prior to cyclophosphamide in steroid-sensitive nephrotic syndrome?

    NARCIS (Netherlands)

    Stadermann, M.B.; Lilien, M.R.; Kar, N.C.A.J. van de; Monnens, L.A.H.; Schröder, C.H.

    2003-01-01

    AIM: The present studywas designed to retrospectively evaluate the use of renal biopsies prior to cyclophosphamide therapy. The aim of the study was to determine in how many cases histological outcome of the biopsies had subsequently changed the decision to treat or refrain from treatment. PATIENTS

  9. Vitamin D status is insufficient in the majority of children at diagnosis of nephrotic syndrome

    DEFF Research Database (Denmark)

    Nielsen, Cecilie Ane; Jensen, Jens-Erik Bech; Cortes, Dina

    2015-01-01

    time of their diagnosis before treatment with glucocorticoids. The following plasma levels were measured: 25-hydroxy-vitamin-D (25(OH)D), albumin, ionised calcium, phosphate, parathyroid hormone (PTH), alkaline phosphatase and creatinine. The glomerular filtration rate (GFR) was estimated from the...... Schwartz formula, and only patients with normal values were included. RESULTS: A total of 14 children were examined, 13 (93%) had 25(OH)D deficiency including 12 (86%) with moderate or severe vitamin D deficiency. The plasma 25(OH)D was positively associated with plasma albumin (p = 0.031) and negatively...

  10. Treatment of progressive renal failure and nephrotic syndrome with azathioprine and prednisolone.

    OpenAIRE

    Baker, L R; Tucker, B; Macdougall, I C; Oommen, R

    1997-01-01

    Four patients with idiopathic membranous glomerulonephritis, heavy proteinuria and progressive renal failure received azathioprine and prednisolone. Renal function improved in all four and proteinuria declined sharply in three. We suggest that treatment with azathioprine and prednisolone may be of benefit in this form of idiopathic membranous glomerulonephritis.

  11. A 17-Year-Old With Steroid-Resistant Nephrotic Syndrome.

    Science.gov (United States)

    Band, Molly E; Sheldon, Candice; Brancato, John; Parikh, Nehal S; D'Alessandri-Silva, Cynthia

    2016-05-01

    A 17-year-old girl presented with facial swelling and shortness of breath to an outside emergency department. She was treated for an allergic reaction with steroids and antihistamines, and discharged from the hospital. Subsequently, she was referred as an outpatient to pediatric nephrology for recurrent edema and proteinuria. Initial laboratory workup by nephrology was significant for a normal complete blood count and reassuring electrolyte panel. Pertinent laboratories were a creatinine of 0.5 mg/dL (0.4-1.1 mg/dL) and an albumin 2.3 g/dL (3.5-5.0 g/dL). The urine protein-to-creatinine ratio was >7 (<0.2). A renal ultrasound showed symmetrically sized kidneys with normal echotexture. The patient's renal biopsy results were consistent with minimal change disease. Based on the biopsy results, prednisone was started. Due to a poor response to prednisone, an alternate immunomodulator therapy was selected. Her subsequent complete blood counts showed a downward trend of all cell lines and an elevated serum uric acid. Concurrently, she reported worsening fatigue, low back pain, nausea, vomiting, night sweats, and pruritus. More details of her case and the outcome are presented. PMID:27244796

  12. Type-1 diabetes mellitus, nephrotic syndrome, and vur with ace gene polymorphism

    International Nuclear Information System (INIS)

    Objectives: To determine sensitivity, specificity and other operating characteristics of bedside three-point compression ultrasonography performed in emergency department by emergency physicians in comparison with duplex ultrasonography. Methods: The cross-sectional study at Rasoul-e-Akram Hospital in Tehran, Iran, prospectively evaluated 81 suspected patients of lower extremity deep vein thrombosis between March 2006 and March 2007. A trained second-year resident and one attending physician of emergency medicine evaluated the veins of all the patients with through compression ultrasonography. Then, a second-year resident of radiology assessed the patients with duplex ultrasonography. Finally, data were compared and quantitative and categorical variables were worked out along with other statistical analysis through SPSS version 16. Results: The mean age of the patients was 47.2 +- 18.6 years. When cases who lost the compressibility of at least one of their femoral or popliteal veins were considered to be positive, there were 80.2% diagnosed by compression ultrasonography and 79% by the duplex variety. Sensitivity, specificity and accuracy of the former in comparison with the latter were 85.9%, 41.2% and 84.6% respectively. Conclusion: Compression ultrasonography has relatively an acceptable sensitivity and accuracy level, but has low specificity in the diagnosis of deep vein thrombosis in the hands of Iranian emergency physicians. It is better to implement duplex ultrasonography whenever accessible. Otherwise, compression ultrasonography results should be compared with the results of duplex ultrasonography as soon as possible. (author)

  13. Progression of glomerulonephritis to end-stage kidney disease in a cat with nephrotic syndrome.

    Science.gov (United States)

    Kamiie, Junichi; Haishima, Atsuko; Inoue, Kaoru; Ogihara, Kikumi; Ono, Mihoko; Yasuno, Kyohei; Kobayashi, Ryosuke; Aihara, Naoyuki; Ohmuro, Tamio; Shirota, Kinji

    2011-01-01

    A percutaneous renal biopsy was performed on a 3-year-old female Japanese domestic cat with pleural effusion, mild azotemia, hypoalbuminemia, hypercholesterolemia, and proteinuria. Glomerular lesions included mild diffuse hypercellularity and numerous capsular adhesions with segmental sclerosis/hyalinosis of glomerular tufts. Electron microscopy revealed many subendothelial dense deposits with characteristic outer protrusion of glomerular basement membrane. Diffuse and global granular deposits of IgG and C3 were detected along the capillary walls. Tubulo-interstitial changes were mild at the time of biopsy, but progression of the disease was predicted because of the many capsular adhesions of the glomerular tufts. The cat was fed a prescription diet without any other specific or symptomatic therapy after renal biopsy, and died 43 weeks after the biopsy. At necropsy, extensive tubulo-interstitial fibrosis and mononuclear cell infiltration had developed throughout the cortex and outer medulla, and most glomeruli had extensive global sclerosis or obsolescence with less prominent depositions of IgG and C3. PMID:20823662

  14. Posterior leukoencephalopathy syndrome in poststretococcal acute glomerulonephritis

    International Nuclear Information System (INIS)

    Reversible posterior leukoencephalopathy (LEPR) is a clinical entity that affects radiation usually the white matter of the cerebral hemispheres. It is frequently associated with acute arterial hypertension and immunosuppressive therapy, among other causes. The clinical presentation is varied, with headache, nausea, vomiting, impaired consciousness and abnormal behavior, seizures and visual disturbances, symptoms that often regress. Computed tomography (CT) and magnetic resonance imaging (MRI) images show white matter edema predominantly in posterior regions of the brain. We present a 10 year old boy with leprosy in the course of a nephrotic syndrome secondary to acute diffuse glomerunefritis (GNDA) poststreptococcal. (author)

  15. Clinical Features of Turner Syndrome

    Science.gov (United States)

    ... growth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights ... easily treated with thyroid hormone supplements. Cognitive Function/Educational Issues In general, individuals with Turner syndrome have ...

  16. Genetics Home Reference: Menkes syndrome

    Science.gov (United States)

    ... In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa ) ... bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. ...

  17. [A study on protein metabolism in nephrotic patients treated with Chinese herbs].

    Science.gov (United States)

    Li, L; Yu, H; Pan, J

    1995-10-01

    It was found in our previous studies that two Chinese herbs Astragali and Angelica (A&A) together with high protein diet could ameliorate the lowering of serum albumin level and increase the synthesis rate of protein as shown by 15N-glicine tracer priming protein turnover study in nephrotic rats. Further experiment was designed to investigate the role of A&A and high protein intake in protein dynamic study and nitrogen balance in nephrotic patients. The level of serum total protein (STP), serum albumin (SA), urinary protein loss (UP), serum cholesterol (Cho) and index number of protein turnover and nitrogen balance in 7 patients were measured before and after treatment of 30 days with A&A. The results showed that after treatment the patients had significantly increased STA and SA (44.3 +/- 5.60 vs 49.7 +/- 6.80 P < 0.01; 22.6 +/- 0.42 vs. 29.4 +/- 7.40 P < 0.05), decreased UP and Cho (6.54 +/- 1.83 vs 4.63 +/- 1.33 P < 0.05; 9.69 +/- 2.31 vs. 7.82 +/- 1.95 P < 0.05) and increased net rates of total protein synthesis (1.06 +/- 0.03 vs 1.27 +/- 0.12 P < 0.05). It is concluded that A&A together with high protein intake could improve the disorder of protein metabolism and increase the level of serum protein by improving the net rate of protein synthesis in nephrotic patients. PMID:8731827

  18. Membranous nephropathy and lupus-like syndrome after hematopoietic cell transplantation: a case report

    Directory of Open Access Journals (Sweden)

    Stylianou Kostas

    2010-09-01

    Full Text Available Abstract Introduction The kidney is increasingly recognised as a target organ of chronic graft-versus-host disease after hematopoietic cell transplantation in the context of the development of the nephrotic syndrome. Chronic graft-versus-host disease is associated with autoimmune phenomena similar, but not identical, to those observed in various rheumatologic disorders, implicating autoimmunity as an important component of the disease. Case presentation We report the case of a 57-year-old Caucasian man who developed the nephrotic syndrome due to membranous nephropathy in association with recurrent chronic graft-versus-host disease, along with a lupus-like syndrome manifested with pancytopenia, hair loss, positive anti-DNA antibodies and sub-epithelial and mesangial immune deposits. To the best of our knowledge, this is the first case reported in the literature. The nephrotic syndrome subsided soon after he was treated with a short course of cyclosporin with steroids. Unfortunately he died seven months later due to a relapse of leukemia. Conclusions Our case report confirms the notion that chronic graft-versus-host disease is characterized by the appearance of autoimmune phenomena similar, but not identical, to those seen in autoimmune diseases. The decision for more immunosuppression has to be weighed against the need for preservation of the graft versus leukemia phenomenon.

  19. Childhood Leukemia

    Science.gov (United States)

    Leukemia is cancer of the white blood cells. It is the most common type of childhood cancer. ... blood cells help your body fight infection. In leukemia, the bone marrow produces abnormal white blood cells. ...

  20. Childhood leukaemia

    International Nuclear Information System (INIS)

    The debate on whether there is any link between leukaemia clusters and nuclear installations has been raging since the early eighties. A Government Inquiry found no link between childhood leukaemia and residence near Seascale, an area near British Nuclear Fuels Sellafield plant. Research in the 1980s linked childhood leukaemia to fathers' occupations prior to conception in the Seascale plant but also to workers in the iron, steel, farming and chemical industries. This article reviews research findings to date. (UK)

  1. Is Socioeconomic Position Related to the Prevalence of Metabolic Syndrome?

    OpenAIRE

    Ramsay, Sheena E.; Whincup, Peter H; Morris, Richard; Lennon, Lucy; Wannamethee, S. G.

    2008-01-01

    OBJECTIVE—To examine whether adult social class and childhood social class are related to metabolic syndrome in later life, independent of adult behavioral factors. RESEARCH DESIGN AND METHODS—This was a population-based cross-sectional study comprising 2,968 men aged 60–79 years. RESULTS—Adult social class and childhood social class were both inversely related to metabolic syndrome. Mutual adjustment attenuated the relation of metabolic syndrome with childhood social class; that with adult s...

  2. Membranous nephropathy and lupus-like syndrome after hematopoietic cell transplantation: a case report

    OpenAIRE

    Stylianou Kostas; Stratakis Stavros; Mavroeidi Vasiliki; Petrakis Ioannis; Xydakis Dimitris; Vardaki Eleftheria; Stratigis Spyros; Perakis Kostas; Katsarou Theodora; Kanellou Peggy; Xylouri Irene; Petraki Constantina; Alexandrakis Michael; Daphnis Eugene

    2010-01-01

    Abstract Introduction The kidney is increasingly recognised as a target organ of chronic graft-versus-host disease after hematopoietic cell transplantation in the context of the development of the nephrotic syndrome. Chronic graft-versus-host disease is associated with autoimmune phenomena similar, but not identical, to those observed in various rheumatologic disorders, implicating autoimmunity as an important component of the disease. Case presentation We report the case of a 57-year-old Cau...

  3. Superior oblique tendon (Brown’s) syndrome as the presenting finding in childhood onset HLA-B27-related enthesitis and juvenile idiopathic oligoarticular arthritis

    OpenAIRE

    Pham, C; V. Utz; A. Marcotty; A. Zeft; P. Rychwalski

    2014-01-01

    We report two patients who presented with Brown’s syndrome. The first is a 7-year-old boy who at the time of his diagnosis was also found to have enthesitis and HLA-B27 positivity. The second patient was diagnosed with bilateral Brown’s syndrome at 13 months of age. At age 7 she developed a persistent oligoarticular arthritis and unilateral anterior iritis consistent with the oligoarticular Juvenile Idiopatic Arthritis (JIA) phenotype. These cases highlight ophthalmologic findings and diagnos...

  4. Childhood obesity

    DEFF Research Database (Denmark)

    Heitmann, Berit L; Koplan, Jeffrey; Lissner, Lauren

    2009-01-01

    Despite progress toward assuring the health of today's young population, the 21(st) century began with an epidemic of childhood obesity. There is general agreement that the situation must be addressed by means of primary prevention, but relatively little is known about how to intervene effectively....... The evidence behind the assumption that childhood obesity can be prevented was discussed critically in this roundtable symposium. Overall, there was general agreement that action is needed and that the worldwide epidemic itself is sufficient evidence for action. As the poet, writer, and scholar...

  5. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    , 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...

  6. Antisocial Behavioral Syndromes in Cocaine and Cannabis Dependence

    OpenAIRE

    Mariani, John J.; Horey, Jonathan; Bisaga, Adam; Aharonovich, Efrat; Raby, Wilfrid; Cheng, Wendy Y.; Nunes, Edward; Levin, Frances R.

    2008-01-01

    Antisocial personality disorder (ASPD) is highly associated with substance use disorders (SUD). In addition to the full ASPD syndrome, which requires both childhood conduct disorder and the adult features, other antisocial behavioral syndromes, including conduct disorder (CD) alone without the adult syndrome, and the adult antisocial behavioral syndrome without childhood CD (AABS) are also frequently diagnosed in patients with SUD. The aim of this study was to compare the rates of these vario...

  7. Childhood Obesity

    Science.gov (United States)

    Yuca, Sevil Ari, Ed.

    2012-01-01

    This book aims to provide readers with a general as well as an advanced overview of the key trends in childhood obesity. Obesity is an illness that occurs due to a combination of genetic, environmental, psychosocial, metabolic and hormonal factors. The prevalence of obesity has shown a great rise both in adults and children in the last 30 years.…

  8. Childhood Obesity

    Centers for Disease Control (CDC) Podcasts

    2013-08-06

    In this podcast, Dr. Tom Frieden, CDC Director, discusses the decrease in childhood obesity rates and what strategies have been proven to work to help our children grow up and thrive.  Created: 8/6/2013 by National Center for Injury Prevention and Control.   Date Released: 3/6/2014.

  9. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  10. Polycystic Ovary Syndrome in Adolescence

    OpenAIRE

    Buggs, Colleen; Rosenfield, Robert L.

    2005-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman’s risk of developing cardiovascular disease. Therefor...

  11. Childhood Obesity and Risk of Pediatric MS

    Directory of Open Access Journals (Sweden)

    J. Gordon Millichap

    2013-03-01

    Full Text Available Researchers at Kaiser Permanente of Southern California studied a possible relation between childhood obesity and pediatric-onset multiple sclerosis (MS or its potential precursor, clinically isolated syndrome (CIS, which encompasses optic neuritis (ON and transverse myelitis (TM.

  12. Adiponectin in childhood.

    Science.gov (United States)

    Jeffery, Alison N; Murphy, Michael J; Metcalf, Brad S; Hosking, Joanne; Voss, Linda D; English, Patrick; Sattar, Naveed; Wilkin, Terence J

    2008-01-01

    Adiponectin, a hormone produced and secreted by adipocytes, is present in circulation in high circulating concentrations, suggesting an important physiological role. An indirect regulator of glucose metabolism, adiponectin increases insulin sensitivity, improves glucose tolerance and inhibits inflammation. Plasma adiponectin relates inversely to adiposity and, importantly, reflects the sequelae of accumulation of excess adiposity. The role of adiponectin in adults has been explored in detail. Studies in children are now available and, given the increasing rates of childhood obesity, it is important to establish the role of adiponectin in mediating insulin resistance and cardiovascular disease in this age group. This paper reviews the regulation of adiponectin, its effect on body mass, glucose metabolism and cardiovascular risk in infants, children and adolescents. It demonstrates clear links between adiponectin and features of the metabolic syndrome in obese children and adolescents. However, adiponectin's role as a predictor of metabolic dysfunction in healthy, normal-weight youngsters is less clear. PMID:19086185

  13. Childhood vitiligo

    Directory of Open Access Journals (Sweden)

    Aparna Palit

    2012-01-01

    Full Text Available Childhood vitiligo is often encountered in dermatological practice. When present in infancy or early childhood, various nevoid and hereditary disorders are to be differentiated. In many cases, familial aggregation of the disease is seen and other autoimmune disorders may be associated. Segmental presentation is more common, and limited body surface area involvement is usual in this age group. Children with vitiligo often suffer from anxiety and depression because of their unusual appearance. Management of vitiligo in children is difficult as therapeutic options are restricted when compared to that in adult patients. Selection of treatment should be careful in these patients with the aim to achieve best results with minimal side effects as well as relieving patients′ and parents′ anxiety.

  14. Childhood psoriasis

    OpenAIRE

    Dogra Sunil; Kaur Inderjeet

    2010-01-01

    Psoriasis is a common dermatosis in children with about one third of all patients having onset of disease in the first or second decade of life. A chronic disfiguring skin disease, such as psoriasis, in childhood is likely to have profound emotional and psychological effects, and hence requires special attention. Psoriasis in children has been reported to differ from that among adults being more frequently pruritic; plaque lesions are relatively thinner, softer, and less scaly; face and flexu...

  15. Combined dyslipidemia in childhood.

    Science.gov (United States)

    Kavey, Rae-Ellen W

    2015-01-01

    Combined dyslipidemia (CD) is now the predominant dyslipidemic pattern in childhood, characterized by moderate-to-severe elevation in triglycerides and non-high-density lipoprotein cholesterol (non-HDL-C), minimal elevation in low-density lipoprotein cholesterol (LDL-C), and reduced HDL-C. Nuclear magnetic resonance spectroscopy shows that the CD pattern is represented at the lipid subpopulation level as an increase in small, dense LDL and in overall LDL particle number plus a reduction in total HDL-C and large HDL particles, a highly atherogenic pattern. In youth, CD occurs almost exclusively with obesity and is highly prevalent, seen in more than 40% of obese adolescents. CD in childhood predicts pathologic evidence of atherosclerosis and vascular dysfunction in adolescence and young adulthood, and early clinical cardiovascular events in adult life. There is a tight connection between CD, visceral adiposity, insulin resistance, nonalcoholic fatty liver disease, and the metabolic syndrome, suggesting an integrated pathophysiological response to excessive weight gain. Weight loss, changes in dietary composition, and increases in physical activity have all been shown to improve CD significantly in children and adolescents in short-term studies. Most importantly, even small amounts of weight loss are associated with significant decreases in triglyceride levels and increases in HDL-C levels with improvement in lipid subpopulations. Diet change focused on limitation of simple carbohydrate intake with specific elimination of all sugar-sweetened beverages is very effective. Evidence-based recommendations for initiating diet and activity change are provided. Rarely, drug therapy is needed, and the evidence for drug treatment of CD in childhood is reviewed. PMID:26343211

  16. Childhood Traumatic Grief

    Science.gov (United States)

    ... Educators Resources for Kids and Teens Childhood Traumatic Grief What is Childhood Traumatic Grief? Children grieve in their own way following the ... child may have a condition called Childhood Traumatic Grief (CTG). Thinking about the person who died—even ...

  17. Childhood Cancer Statistics

    Science.gov (United States)

    ... Shop With CureSearch Blog Donate Now Select Page Childhood Cancer Statistics Home > Understanding Children’s Cancer > Childhood Cancer Statistics Childhood Cancer Statistics – Graphs and Infographics Number of Diagnoses ...

  18. Cranial nerve palsies in childhood.

    Science.gov (United States)

    Lyons, C J; Godoy, F; ALQahtani, E

    2015-02-01

    We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after injury. Thus, aberrant regeneration is very common after congenital III palsy; Duane syndrome, the result of early repair after congenital VI palsy, is invariably associated with retraction of the globe in adduction related to the innervation of the lateral rectus by the III nerve causing co-contraction in adduction. Clinical features that may be of concern in adulthood may not be relevant in childhood; whereas the presence of mydriasis in III palsy suggests a compressive aetiology in adults, this is not the case in children. However, the frequency of associated CNS abnormalities in III palsy and the risk of tumour in VI palsy can be indications for early neuroimaging depending on presenting features elicited through a careful history and clinical examination. The latter should include the neighbouring cranial nerves. We discuss the impact of our evolving knowledge of congenital cranial dysinnervation syndromes on this field. PMID:25572578

  19. [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

    Science.gov (United States)

    Morisada, Naoya; Tsuneishi, Syuichi; Taguchi, Kazuhiro; Yagi, Ryuzaburo; Nishiyama, Masahiro; Toyoshima, Daisaku; Nakagawa, Taku; Takeshima, Yasuhiro; Takada, Satoshi; Iijima, Kazumoto

    2016-05-01

    Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and she frequently sucked her hand, which was considered to be a stereotypical movement. She had a febrile convulsion at 6 months of age but there was no history of epilepsy. The delay in language development was more severe than the delay in motor development; she was able to dress herself, walk unaided, and follow simple instructions until adolescence. After the age of 20, her movement ability rapidly declined. By the time she was 42 years old, she was bedridden and unable to communicate. Brain magnetic resonance imaging (MRI) at 21 years revealed no abnormality except non-specific cerebral atrophy. However, MRI at 39 years revealed abnormalities in the globus pallidus and substantia nigra, with neurodegeneration and iron accumulation in the brain. Genetic analysis for WDR45 revealed that she had a splice site mutation (NM_007075.3: c.830 + 2 T > C) which was previously reported, and a diagnosis of BPAN was confirmed. For specific therapies to be developed for BPAN in the future, it is necessary to establish early diagnosis, including genetic analysis. PMID:27349085

  20. Beckwith-Wiedemann syndrome: dental management.

    LENUS (Irish Health Repository)

    Garvey, M T

    1997-06-01

    Beckwith-Wiedemann syndrome (BWS) comprises multiple congenital anomalies with a risk of childhood tumours. Macroglossia is the most common manifestation. Two cases are presented to illustrate the importance of early referral and the role of preventive dentistry.

  1. Neprhrotic syndrome in a patient with rheumatoid arthritis treated with adalimumab: a case report

    Directory of Open Access Journals (Sweden)

    M.G. Portuesi

    2011-09-01

    Full Text Available The pathogenetic role of TNFα in inflammatory diseases has been known for a long time and has modified the therapeutic approach towards this pathology. All over the word, about 400.000 patients have been treated with biological anti-TNFα drugs. Particular attention has been taken for the safety of their use. Let us describe a case of 60 year old man affected by rheumatoid arthritis who has developed nephrotic syndrome with histological pattern typical of systemic lupus erythematosus-like syndrome, without autoantibodies.

  2. Childhood psoriasis

    Directory of Open Access Journals (Sweden)

    Dogra Sunil

    2010-01-01

    Full Text Available Psoriasis is a common dermatosis in children with about one third of all patients having onset of disease in the first or second decade of life. A chronic disfiguring skin disease, such as psoriasis, in childhood is likely to have profound emotional and psychological effects, and hence requires special attention. Psoriasis in children has been reported to differ from that among adults being more frequently pruritic; plaque lesions are relatively thinner, softer, and less scaly; face and flexural involvement is common and guttate type is the characteristic presentation. Whether onset in childhood predicts a more severe form of psoriasis is a matter of controversy, it may cause significant morbidity particularly if it keeps relapsing. Most children have mild form of psoriasis which can be generally treated effectively with topical agents such as emollients, coal tar, corticosteroids, dithranol, calcipotriol etc. according to age and the sites affected. Narrow band UVB is the preferred form of phototherapy in children for moderate to severe disease or in patients not responding to topical therapy alone. Systemic therapies are reserved for more severe and extensive cases that cannot be controlled with topical treatment and/or phototherapy such as severe plaque type, unstable forms like erythrodermic and generalized pustular psoriasis and psoriatic arthritis. There are no controlled trials of systemic therapies in this age group, most experience being with retinoids and methotrexate with favorable results. Cyclosporine can be used as a short-term intermittent crisis management drug. There is an early promising experience with the use of biologics (etanercept and infliximab in childhood psoriasis. Systemic treatments as well as phototherapy have limited use in children due to cumulative dose effects of drugs, low acceptance, and risk of gonadal toxicity. More evidence-based data is needed about the effectiveness and long-term safety of topical

  3. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

    Science.gov (United States)

    Rosti, Rasim O; Dikoglu, Esra; Zaki, Maha S; Abdel-Salam, Ghada; Makhseed, Nawal; Sese, Jordan C; Musaev, Damir; Rosti, Basak; Harbert, Mary J; Jones, Marilyn C; Vaux, Keith K; Gleeson, Joseph G

    2016-04-01

    Galloway-Mowat syndrome is a rare autosomal-recessive disorder classically described as the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating mutations in WDR73 (WD repeat domain 73) were described in two of 31 unrelated families with Galloway-Mowat syndrome which was followed by a report of two sibs in an Egyptian consanguineous family. In this report, seven affecteds from four families showing biallelic missense mutations in WDR73 were identified by exome sequencing and confirmed to follow a recessive model of inheritance. Three-dimensional modeling predicted conformational alterations as a result of the mutation, supporting pathogenicity. An additional 13 families with microcephaly and renal phenotype were negative for WDR73 mutations. Missense mutations in the WDR73 gene are reported for the first time in Galloway-Mowat syndrome. A detailed phenotypic comparison of all reported WDR73-linked Galloway-Mowat syndrome patients with WDR73 negative patients showed that WDR73 mutations are limited to those with classical Galloway-Mowat syndrome features, in addition to cerebellar atrophy, thin corpus callosum, brain stem hypoplasia, occasional coarse face, late-onset and mostly slow progressive nephrotic syndrome, and frequent epilepsy. PMID:27001912

  4. Perinatal Risk Factors for Childhood Leukemia

    OpenAIRE

    Naumburg, Estelle

    2002-01-01

    The aim of the studies described in this thesis was to assess the association between certain perinatal factors and the risk of childhood lymphatic and myeloid leukemia and infant leukemia. The five studies presented were all conducted in Sweden as population-based case-control studies. All cases were born and diagnosed between 1973-89 with leukemia up to the age of 16 years. A control was individually matched to each case. As Down’s syndrome entails a major risk for childhood leukemia, chil...

  5. Acute acquired comitant esotropia of childhood

    DEFF Research Database (Denmark)

    Hesgaard, Helena; Vinding, Troels

    2015-01-01

    : In all, 48 cases were recorded. The mean age at onset was 4.7 years, being significantly higher among children with intracranial disease. Seven cause-specific types of AACE in childhood were identified: The acute accommodative (n = 15, 31%), decompensated monofixation syndrome or esophoria (n = 13...... AACE and by review of literature, we identified seven cause-specific types of AACE. Intracranial disease was present in 6%, and four risk factors were identified to guide clinicians when to perform brain imaging. Findings suggest AACE of childhood to be differentiated from AACE of adulthood....

  6. An Evaluation of Acylated Ghrelin and Obestatin Levels in Childhood Obesity and Their Association with Insulin Resistance, Metabolic Syndrome, and Oxidative Stress

    Science.gov (United States)

    Razzaghy-Azar, Maryam; Nourbakhsh, Mitra; Pourmoteabed, Abdolreza; Nourbakhsh, Mona; Ilbeigi, Davod; Khosravi, Mohsen

    2016-01-01

    Background: Ghrelin is a 28-amino acid peptide with an orexigenic property, which is predominantly produced by the stomach. Acylated ghrelin is the active form of this hormone. Obestatin is a 23-amino acid peptide which is produced by post-translational modification of a protein precursor that also produces ghrelin. Obestatin has the opposite effect of ghrelin on food intake. The aim of this study was to evaluate acylated ghrelin and obestatin levels and their ratio in obese and normal-weight children and adolescents, and their association with metabolic syndrome (MetS) parameters. Methods: Serum acyl-ghrelin, obestatin, leptin, insulin, fasting plasma glucose (FPG), lipid profile, and malondialdehyde (MDA) were evaluated in 73 children and adolescents (42 obese and 31 control). Insulin resistance was calculated by a homeostasis model assessment of insulin resistance (HOMA-IR). MetS was determined according to IDF criteria. Results: Acyl-ghrelin levels were significantly lower in obese subjects compared to the control group and lower in obese children with MetS compared to obese subjects without MetS. Obestatin was significantly higher in obese subjects compared to that of the control, but it did not differ significantly among those with or without MetS. Acyl-ghrelin to obestatin ratio was significantly lower in obese subjects compared to that in normal subjects. Acyl-ghrelin showed significant negative and obestatin showed significant positive correlations with body mass index (BMI), BMI Z-score, leptin, insulin, and HOMA-IR. Acyl-ghrelin had a significant negative correlation with MDA as an index of oxidative stress. Conclusion: Ghrelin is decreased and obestatin is elevated in obesity. Both of these hormones are associated with insulin resistance, and ghrelin is associated with oxidative stress. The balance between ghrelin and obestatin seems to be disturbed in obesity. PMID:27348010

  7. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

    OpenAIRE

    Kratz, Christian P; Holter, Spring; Etzler, Julia; Lauten, Melchior; Pollett, Aaron; Charlotte M. Niemeyer; Gallinger, Steven; Wimmer, Katharina

    2009-01-01

    Abstract Background: Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterized by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumor spectrum of CMMR-D syndrome includes hematological neoplasias, brain tumors and Lynch syndrome as...

  8. How Are Childhood Cancers Found?

    Science.gov (United States)

    ... Topic How are childhood cancers treated? How are childhood cancers found? Screening for childhood cancers Screening is testing for a disease such ... in people who don’t have any symptoms. Childhood cancers are rare, and there are no widely ...

  9. Application of nuclear medicine to heart diseases in childhood

    International Nuclear Information System (INIS)

    Various procedures to obtain radioisotopic images of the cardiovascular system were described, and representative cases in childhood were presented. Apparatuses, radiopharmaceuticals such as sup(99m)Tc pertechnatate, 201Thallium, and 133Xenon gas, and their dosage in childhood were briefly reviewed. Several cases of persistent fetal circulation, common A-V valve, tetralogy of Fallot, pulmonary atresia, etc. were presented with figures with special emphasis on acute febrile mucocutaneous lymph node syndrome and 201Thallium myocardial imaging. (Kondo, M.)

  10. Application of nuclear medicine to heart diseases in childhood

    Energy Technology Data Exchange (ETDEWEB)

    Tsuji, A. (Yamanashi Medical Coll., Tamaho, Kofu (Japan)); Osano, M.

    1981-06-01

    Various procedures to obtain radioisotopic images of the cardiovascular system were described, and representative cases in childhood were presented. Apparatuses, radiopharmaceuticals such as sup(99m)Tc pertechnatate, /sup 201/Thallium, and /sup 133/Xenon gas, and their dosage in childhood were briefly reviewed. Several cases of persistent fetal circulation, common A-V valve, tetralogy of Fallot, pulmonary atresia, etc. were presented with figures with special emphasis on acute febrile mucocutaneous lymph node syndrome and /sup 201/Thallium myocardial imaging.

  11. Mitral valve disease in Marfan's syndrome.

    OpenAIRE

    Marlow, N; Gregg, J. E.; Qureshi, S A

    1987-01-01

    Cardiovascular disease in Marfan's syndrome presenting in childhood affects the mitral valve more often than the aortic valve or the aorta, as in adults. Early evaluation of the cardiovascular system is necessary for any child in whom Marfan's syndrome is suspected.

  12. 儿童阻塞性睡眠呼吸暂停低通气综合征麻醉方式的选择%Choose the method of anesthetization for childhood obstructive sleep apnea hypopnea syndrome

    Institute of Scientific and Technical Information of China (English)

    段宗瑾; 朱明

    2010-01-01

    目的 探讨手术治疗儿童阻塞性睡眠呼吸暂停低通气综合征(OSAHS)的麻醉方式.方法 选择98例扁桃体伴腺样体肥大患儿,随机分为局部浸润麻醉组(局麻组)和全身静脉麻醉组(全麻组).局麻组行扁桃体挤切、腺样体刮除;全麻组行扁桃体剥离术,小儿鼻内镜直视下腺样体刮除.对两组出血量、手术时间、进食时间、术后残体、住院费用及手术疗效进行比较.结果 全麻组术中出血多,手术时间长,住院费用高;而局麻组术后残体多,个别患儿不配合需改用全麻.但两种麻醉方式下,术后睡眠打鼾、张口呼吸、憋气等症状明显改善,手术疗效几乎相同.结论 两种麻醉方式各有优缺点,但局麻下手术治疗儿童OSAHS与全麻一样安全有效,应针对不同情况选择.%Objective To discuss how to choose the method of anesthetization for childhood obstructive sleep apnea hypopnea syndrome(OSAHS).Methods 98 children with tonsillar and adenoidal hypertrophy were seleted,and were randomly divided into two groups.Tonsillectomy and adenoidectomy were performed for the group with local infiltration anesthesia,while Tonsil dissection and endoscopic-assisted adenoidectomy through nose were for the group with intravenous general anesthesia.Then blood loss,operation time,intake time,operation damage,psychological trau-ma,hospitalization fares and operative efficacy were compared.Results The group with general anesthesia lost more blood,underwent longer operations with higher cost;the group with local anesthesia had more operation damage,grea-ter psyhologieal trauma and sometimes general anesthesia was necessary for the children who didn't cooperate.But these two methods of anesthetization almost had the same operative efficacy,and the symptoms such as snoring,oral breathing and suffocating were significantly improved after surgery.Condusion Every method had own advantages and disadvantages.Local anesthesia was as effective as

  13. Childhood medulloblastoma.

    Science.gov (United States)

    Massimino, Maura; Biassoni, Veronica; Gandola, Lorenza; Garrè, Maria Luisa; Gatta, Gemma; Giangaspero, Felice; Poggi, Geraldina; Rutkowski, Stefan

    2016-09-01

    Medulloblastoma accounts for 15-20% of childhood nervous system tumours. The risk of dying was reduced by 30% in the last twenty years. Patients are divided in risk strata according to post-surgical disease, dissemination, histology and some molecular features such as WNT subgroup and MYC status. Sixty to 70% of patients older than 3 years are assigned to the average-risk group. High-risk patients include those with disseminated and/or residual disease, large cell and/or anaplastic histotypes, MYC genes amplification. Current and currently planned clinical trials will: (1) evaluate the feasibility of reducing both the dose of craniospinal irradiation and the volume of the posterior fossa radiotherapy (RT) for those patients at low biologic risk, commonly identified as those having a medulloblastoma of the WNT subgroup; (2) determine whether intensification of chemotherapy (CT) or irradiation can improve outcome in patients with high-risk disease; (3) find target therapies allowing tailored therapies especially for relapsing patients and those with higher biological risk. PMID:27375228

  14. 46,XX Male Syndrome

    Directory of Open Access Journals (Sweden)

    Bekir Uçan

    2013-06-01

    Full Text Available 46, XX male syndrome – testicular disorder of sexual differentiation (DSD is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic. Turk Jem 2013; 17: 46-8

  15. Noonan syndrome and chylothorax

    International Nuclear Information System (INIS)

    Chylothorax during childhood usually develops as a result of posto-perative complications following cardiothoracic surgery. It is rarely due to the malformations of the lymphatic system associated with dysmorphic syndrome. We report two cases of Noonan syndrome involving neonatal development of chylothorax. In children with the Noonan phenotype who develop pleural effusion during the neonatal period in the absence of obstetric trauma, it is advisable to rule out the presence of congenital lymphatic malformation and study the pleural effusion, initially introducing conservative treatment with dietary therapy. Chest radiography, ultrasound and computed tomography reveal the presence of the pleural effusion and parenchymal pattern compatible with chloroethoxy and lymphangiectasis. (Author) 15 refs

  16. Childhood Brain Tumors

    Science.gov (United States)

    ... They are among the most common types of childhood cancers. Some are benign tumors, which aren't ... can still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches ...

  17. Childhood Brain Tumors

    Science.gov (United States)

    Brain tumors are abnormal growths inside the skull. They are among the most common types of childhood ... still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches and ...

  18. Childhood Overweight and Obesity

    Science.gov (United States)

    ... Childhood Obesity Facts The prevalence of obesity among low-income children aged 2 through 4 years, by state ... Obesity now affects 1 in 6 children and adolescents in the United States. Childhood Obesity Facts How ...

  19. Reducing Childhood Obesity

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Reducing Childhood Obesity Past Issues / Summer 2007 Table of Contents For ... page please turn Javascript on. The We Can! childhood obesity-prevention program involves parents, caregivers, and community leaders ...

  20. Childhood Obesity – 2010: Progress and Challenges

    OpenAIRE

    Han, Joan C.; Lawlor, Debbie A.; Kimm, Sue Y.S.

    2010-01-01

    The worldwide prevalence of childhood obesity has increased greatly over the past 3 decades. The increasing occurrence in children of disorders, such as type 2 diabetes, is believed to be a consequence of this obesity epidemic. Much progress has been made in understanding the genetics and physiology of appetite control and from this, the elucidation of the causes of some rare obesity syndromes. However, these rare disorders have so far taught us only limited lessons on how to prevent or rever...

  1. CHILDHOOD PSYCHOPATHOLOGY MEAUSREMENT SCHEDULE: DEVELOPMENT AND STANDARDIZATION*

    OpenAIRE

    Malhotra, Savita; Varma, V.K.; Verma, S.K.; Malhotra, Anil

    1988-01-01

    SUMMARY Development and standardization of an instrument Childhood Psychopathology Measurement Schedule (CPMS) to assess psychopathology in children is reported. CPMS is standardized on Indian population and is applicable to children of both sexes in the age range of 4-14 years. It measures overall psychopathology in the form of a total scores and also the type of psychopathology in the form of eight factorially derived syndromes which have satisfactory reliability and validity. CPMS is propo...

  2. Treatment of Tourette Syndrome

    OpenAIRE

    Kurlan, Roger M.

    2013-01-01

    Tourette’s syndrome (TS) consists of chronic motor and phonic tics and characteristically begins in childhood. The tics can be disabling and commonly associated behavioral comorbities such as attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), can also cause problems in daily functioning. The underlying etiology and neurobiology of TS remain unknown although genetic factors appear to be important, cortical control of basal ganglia motor function appears to...

  3. Pathogenesis of neurocognitive and neuropsychiatric manifestations in childhood-onset lupus: An overview

    OpenAIRE

    Tanya Baqai; Isenberg, David A; Yiannis Ioannou

    2013-01-01

    This review explores current understanding of neuropsychiatric systemic lupus erythe-matosus (NPSLE) of childhood onset, in particular neurocognitive impairment. As yet, fewer studies have focused on childhood onset NPSLE compared to adult onset NPSLE and diagnosis still involves the 1999 American College of Rheumatology case definitions of neuropsychiatric syndromes, which were developed for adults. Although a validated core set of neuropsychometric tests exist for childhood onset NPSLE, the...

  4. Schizophrenia patients with a history of childhood trauma have a pro-inflammatory phenotype

    OpenAIRE

    Dennison, Una; McKernan, Declan P.; Cryan, John F; Dinan, Timothy G.

    2012-01-01

    Background. Increasing evidence indicates that childhood trauma is a risk factor for schizophrenia and patients with this syndrome have a pro-inflammatory phenotype. We tested the hypothesis that the pro-inflammatory phenotype in schizophrenia is associated with childhood trauma and that patients without a history of such trauma have a similar immune profile to healthy controls. Method. We recruited 40 schizophrenia patients and 40 controls, all of whom completed the Childhood Trauma ...

  5. Beals Syndrome

    Science.gov (United States)

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  6. Chromosomal rearrangements in Tourette syndrome

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Debes, Nanette Mol; Hjermind, Lena E;

    2013-01-01

    Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown...

  7. Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals with Down Syndrome

    Science.gov (United States)

    Cuskelly, Monica

    2016-01-01

    The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data…

  8. Childhood proptosis

    International Nuclear Information System (INIS)

    Proptosis in children is a hallmark of orbital diseases which can present a diagnostic challenge requiring thoughtful investigation. The aim of this review is to provide the reader an overview of the subject of childhood proptosis with an emphasis on the systematic and practical approach for the work-up of proptosis in children. Use of proper imaging studies is essential for the correct diagnosis. Computed tomography is a good screening test for any space occupying lesion of the orbit. Proptosis describes eye prominence due to space occupying orbital lesions. Congenital lesions usually present in the first decade of life. Acquired orbital lesions such as lymphangiomas, orbital varix, rhabdomyosarcoma and neural tumors may present at the end of the first decade of life. Metastatic tumors to the orbit, adenocarcinoma of lacrimal gland and rapidly growing masses may present with proptosis associated with pain. Visual loss can be the presenting symptoms in the patients with optic nerve (ON) gliomas, orbital meningiomas and posteriorly located tumors. Cystic lesions of the orbit may be congenital or acquired, dermoid cysts being the most common congenital orbital lesions. Some of the vascular lesions of the orbit include capillary hemangiomas, lymphangiomas, orbital varix, and arteriovenous malformations. Inflammatory process of the orbit in children include cellulitis and pseudotumor. Neural tumors such as neurofibromas, ON gilomas and meningiomas are less common causes of proptosis in children. Rhabdomyosarcoma is the most common primary orbital malignancy in children which can present with acute proptosis and is one of the few life-threatening diseases seen initially by an ophthalmologist. Secondary orbital tumors invade the orbit from adjacent sinuses, cranium or extended from the eye itself. The most common distant metastases in children include neuroblastoma and Ewing's sarcoma. Although many orbital processes can be diagnosed based on history, clinical

  9. Cyclosporin-A induced Posterior Reversible Encephalopathy Syndrome

    Directory of Open Access Journals (Sweden)

    Saeed Bassam

    2008-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a recently proposed clinico-neuroradiological entity observed in a variety of clinical settings such as cyclosporin A (CsA neurotoxicity. We report a 3.5-year-old Syrian boy in whom steroid-resistant focal segmental glomerulosclerosis (FSGS was recently diagnosed. The patient remitted his nephrotic syndrome after 10 days of CsA administration. However, he shortly developed altered mental status, visual impairment, focal neurological deficits and seizures. We discontinued CsA that resulted in complete reversal of the patient′s encephalopathical condition over a period of 4 months. We conclude that PRES should be suspected in immunosuppresed patients with kidney disease if they have a sudden episode of neurological symptoms.

  10. Depressive symptoms and childhood sleep apnea syndrome

    OpenAIRE

    Carotenuto M; Esposito M; Parisi L; Gallai B; Marotta R; Pascotto A; Roccella M

    2012-01-01

    Marco Carotenuto,1 Maria Esposito,1 Lucia Parisi,2 Beatrice Gallai,3 Rosa Marotta,4 Antonio Pascotto,1 Michele Roccella21Sleep Clinic for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Naples, Italy; 2Child Neuropsychiatry, Department of Psychology, University of Palermo, Palermo, Italy; 3Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Perugia, 4Department of Psychiatry, "Magna Graecia" University of Catan...

  11. Depressive symptoms and childhood sleep apnea syndrome

    Directory of Open Access Journals (Sweden)

    Carotenuto M

    2012-08-01

    Full Text Available Marco Carotenuto,1 Maria Esposito,1 Lucia Parisi,2 Beatrice Gallai,3 Rosa Marotta,4 Antonio Pascotto,1 Michele Roccella21Sleep Clinic for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Naples, Italy; 2Child Neuropsychiatry, Department of Psychology, University of Palermo, Palermo, Italy; 3Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Perugia, 4Department of Psychiatry, "Magna Graecia" University of Catanzaro, Catanzaro, ItalyBackground: The relationship between sleep and mood regulation is well known, and some reports suggest a key role of sleep-related breathing disorders (SRBD in the development of the symptomatology of depression, even if no conclusive data are actually found in the clinical literature. The aim of this study was to assess the relationship between SRBD and depressive symptoms in a population of school-aged children.Methods: The study population comprised 94 children affected by SRBD and 107 healthy children. To identify the severity of SRBD, an overnight respiratory evaluation was performed. All subjects filled out the Italian version of the Children Depression Inventory (CDI to screen for the presence of depressive symptoms.Results: The group with SRBD showed higher CDI scores than the group without SRBD, with a positive correlation found between CDI scores, apnea-hypopnea index, and oxygen desaturation index values. Logistic regression showed that an apnea-hypopnea index ≥ 3 and an oxygen desaturation index ≥ 1 could be risk factors for development of depressive symptoms. According to receiver-operating characteristic curve analysis, the cutoff point for the apnea-hypopnea index that could cause a pathological CDI score (≥19 was >5.66, and the cutoff point for the oxygen desaturation index was >4.2. The limitations of this study are that our data are derived from one single psychometric test and not from a complete psychiatric evaluation, and our subjects came from a small group in southern Italy.Conclusion: Our results suggest the importance of mood assessment in children affected by SRBD.Keywords: depression, sleep-related breathing disorders, cardiorespiratory monitoring, children

  12. Childhood Headache Syndromes(Part I

    Directory of Open Access Journals (Sweden)

    Mohammad GHOFRANI

    2010-07-01

    Full Text Available Headache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine. Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complain of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity or Ear Nose  and Throat problems are considered secondary. On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine. Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations. In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing. Once the diagnosis is made, a management program can be put into place.Key words: Headaches, Child,  Children, Migraine. 

  13. Childhood Headache Syndromes(Part I

    Directory of Open Access Journals (Sweden)

    Mohammad Ghofrani

    2010-06-01

    Full Text Available AbstractHeadache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine. Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complain of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity or Ear Nose and Throat problems are considered secondary. On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine. Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations. In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing. Once the diagnosis is made, a management program can be put into place.Headaches, Child, Children, Migraine.

  14. CHILDHOOD HEADACHE SYNDROMES(PART II

    Directory of Open Access Journals (Sweden)

    Mohammad GHOFRANI

    2010-10-01

    Full Text Available ObjectiveHeadache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine.Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complains of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity, ear-nose and throat problems are considered secondary.On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine.Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations.In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing.Once the diagnosis is made, a management program can be put into place.Keywords:Headaches, Child, Children, Migraine

  15. CHILDHOOD HEADACHE SYNDROMES(PART II

    Directory of Open Access Journals (Sweden)

    Mohammad GHOFRANI

    2010-09-01

    Full Text Available ObjectiveHeadache is one of the most common reason that children are referred to the Pediatric Neurology Services. It is said that ten percent of children aged 5 to 15 years have migraine.Subsequently, it is essential for clinician to have a through, comprehensive and systematic approach to the evaluation and management of the child or adolescent who complains of headache.This writing aims to explore the symptoms of headache, its epidemiology, classification, appropriate evaluation, differential diagnosis and management.Headaches are divided into primary and secondary categories. Migraine and tension type headaches are prototype of primary headaches without underlying pathology. On the other hand, the type of headache which stems from organic diseases such as: brain tumor, increased intracranial pressure, systemic disease, drug toxicity, ear-nose and throat problems are considered secondary.On the whole, the majority of children with primary headache have two patterns of headache. One is a chronic low-grade and the other is an intermittent disabling headache. The cause of the former is either caffeine or analgesic abuse, and the latter is predominantly migraine.Traditionally, if a child presents himself with chief complain of headache, care taker physician begins with history taking followed by thorough physical and neurological examinations.In the majority of the cases, this initial process leads to a diagnosis or indicate the need for further testing.Once the diagnosis is made, a management program can be put into place.

  16. Metabolic Syndrome in Childhood Cancer Survivors

    OpenAIRE

    Waas, Marjolein

    2012-01-01

    textabstractOver 200,000 children under the age of fifteen are diagnosed with cancer worldwide every year. Cancer is the second most common cause of death among children between the ages of 1 and 14 years in developed countries, surpassed only by accidents.Nearly one third of the cancers diagnosed in children are leukemias (particularly acute lymphoblastic leukemia (ALL)), followed by cancer of the brain or central nervous system (21%), soft tissue sarcomas (including neuroblastoma (7%) and r...

  17. Genetics Home Reference: autoimmune polyglandular syndrome, type 1

    Science.gov (United States)

    ... by mistake. In most cases, the signs and symptoms of autoimmune polyglandular syndrome, type 1 begin in childhood or adolescence. This condition is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have ...

  18. Senior-Loken syndrome in an Iranian family

    Directory of Open Access Journals (Sweden)

    Roozbeh Jamshid

    2010-01-01

    Full Text Available Senior-Loken syndrome is a rare entity that combines familial juvenile nephro-nophthisis with retinal dystrophy. Herein, we report Senior-Loken syndrome in six members of an Iranian family with progressive blindness and renal failure since childhood. Although, this syn-drome was reported from other parts of the world, report of six members of one family with this syndrome is rare. To the best of our knowledge, this is the first report from Iran.

  19. Pharmacotherapy for Dravet Syndrome.

    Science.gov (United States)

    Wallace, Adam; Wirrell, Elaine; Kenney-Jung, Daniel L

    2016-06-01

    Dravet syndrome (DS) is an intractable pediatric epilepsy syndrome, starting in early childhood. This disorder typically manifests with febrile status epilepticus, and progresses to a multifocal epilepsy with febrile and non-febrile seizures with encephalopathy. Most cases are due to a mutation in the SCN1A gene. This article reviews treatments for DS, with an emphasis on pharmacotherapy. While many medications are used in treating the seizures associated with DS, these patients typically have medically refractory epilepsy, and polytherapy is often required. First-line agents include valproate and clobazam, although there are supportive data for topiramate, levetiracetam, stiripentol and the ketogenic diet. Other agents such as fenfluramine are promising therapies for Dravet syndrome. Sodium channel-blocking anticonvulsants such as carbamazepine and lamotrigine are generally contraindicated in this syndrome. Nonpharmacologic therapies (such as neurostimulation or surgery) are understudied in DS. Because DS is a global encephalopathy, pharmacologic treatment of non-epileptic manifestations of the disease is often necessary. Attention-deficit hyperactivity disorder is often encountered in patients with DS, and psychostimulants can be helpful for this indication. Other psychoactive drugs are less studied in this context. Extrapyramidal and gait disorders are often encountered in DS as well. While DS is a severe epileptic encephalopathy with a high (up to 15 %) mortality rate in childhood, careful pharmacologic management can improve these patients' clinical picture and quality of life. PMID:26966048

  20. Clinical and Experimental Study on Treatment of Childhood Hyperkinetic Syndrome with Yizhidan%益智丹治疗儿童多动症的临床与实验研究

    Institute of Scientific and Technical Information of China (English)

    陈永辉; 黄斌; 赵霞

    2001-01-01

    Objective:To observe the clinical effect of Yizhidan (YZD) intreating childhood hyperkinetic syndrome (CHS) and its mechanism. Methods: Random single blind method was used in clinical study to observe the clinical effect of YZD and compared with that of Ritalin. The dysmnesia model animal was used to observe the effect of YZD on learning memory function and cerebral monoamine neurotransmitter content. Results: The markedly effective rate and the total effective rate of YZD were 45.56% and 87.78%, which were similar to those of Ritalin (53.33% and 86.67%). The Conners index lowered in both groups, showing insignificant difference (P>0.05). Experimental observation showed that YZD could significantly improve the soft neurologic signs and abnormal encephalogram with less side-effects in comparing with Ritalin (P<0.05). Moreover, YZD could obviously improve the learning memory disturbance induced by scopolamine, sodium nitrite and ethanol, and significantly increased the contents of DA in cerebral tissue, as compared with that of the control group, the difference was significant (P<0.01). It also showed effect on DOPAC, NE, HVA, 5-HT and 5-HIAA of mice in certain degree. Conclusion: YZD is an effective drug in treating CHS, its mechanism might be probably related to the improvement of the memory and the enhancement of DA receptor in cerebral tissue.%目的:观察益智丹治疗儿童多动症(CHS)的临床疗效及其作用机制。方法:临床研究采用单盲法随机观察益智丹与利他林的临床疗效;实验研究制作记忆障碍模型,观察益智丹对小鼠学习记忆功能和对小鼠脑组织单胺类神经递质含量的影响。结果:益智丹治疗CHS的显效率、总有效率分别为45.56%、87.78%,与利他林(53.33%、86.67%)相当;Conners指数均明显降低,两组间疗效及多动指数比较差异均无显著性(P>0.05)。益智丹还能显著改善患儿软神经征及异常脑电图,副反

  1. Childhood trauma and childhood urbanicity in relation to psychotic disorder

    NARCIS (Netherlands)

    Frissen, Aleida; Lieverse, Ritsaert; Drukker, Marjan; van Winkel, Ruud; Delespaul, Philippe; Cahn, W

    2015-01-01

    BACKGROUND: Urban upbringing and childhood trauma are both associated with psychotic disorders. However, the association between childhood urbanicity and childhood trauma in psychosis is poorly understood. The urban environment could occasion a background of social adversity against which any effect

  2. Is Socioeconomic Position Related to the Prevalence of Metabolic Syndrome? Influence of social class across the life course in a population-based study of older men

    OpenAIRE

    Ramsay, S. E.; Whincup, P. H.; Morris, R; LENNON, L; Wannamethee, S. G.

    2008-01-01

    OBJECTIVE - To examine whether adult social class and childhood social class are related to metabolic syndrome in later life, independent of adult behavioral factors.RESEARCH DESIGN AND METHODS - This was a population-based cross-sectional study comprising 2,968 men aged 60-79 years.RESULTS - Adult social class and childhood social class were both inversely related to metabolic syndrome. Mutual adjustment attenuated the relation of metabolic syndrome with childhood social class; that with adu...

  3. Disorders of childhood growth and development: childhood obesity.

    Science.gov (United States)

    Mendez, Robert; Grissom, Maureen

    2013-07-01

    The incidence of childhood obesity in the United States is estimated at 17%, or 12 million children ages 2 to 19 years. Obesity is a multifactorial condition with syndromic and nonsyndromic variants. Genetic, social, ethnic, endocrinologic, and behavioral issues are all potential etiologic factors. Preventive efforts should begin with monitoring from birth and include breastfeeding until age 6 months, avoiding juices, and promoting fruit and vegetable consumption and adequate exercise. Childhood obesity is diagnosed based on body mass index; a child is considered overweight at the 85th to 95th percentiles and obese at or above the 95th percentile. After obesity is diagnosed, testing should include blood pressure levels, fasting lipid profile, diabetes screening, and liver function tests. The physician should obtain a detailed history of the physical activity level and food intake and assess possible complications of obesity, including depression and hypertension, annually. Lifestyle interventions with family involvement are the mainstay of management, with pharmacotherapy or bariatric surgery considered for adolescents only if intensive lifestyle modifications have failed and in the presence of comorbidities. Intervention by multiple disciplines (ie, medicine, nutrition, psychology) is recommended, and family physicians are encouraged to become more involved in encouraging physical activity and improved nutrition for children. PMID:23869391

  4. Antiphospholipid Syndrome

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  5. Childhood as a value

    OpenAIRE

    EWELINA PIECUCH

    2011-01-01

    The article encompasses the problems of childhood and its influence on the rest of one's life. I have concentrated on this crucial and specific time in life. It is demonstrated by biology, medicine, psychology, and psychoanalysis that human habits are formed in childhood. Health, hygiene and aesthetic behaviour determine one's further fate and influence life in its entirety. It is that phase of human life that determines the rest of it. In childhood children manifest their cogn...

  6. Childhood Cancer Survivor Study: An Overview

    Science.gov (United States)

    ... Cancers of Childhood Treatment Childhood Cancer Genomics Research Childhood Cancer Survivor Study: An Overview In 2016, it ... Late Effects of Treatment for Childhood Cancer .) The Childhood Cancer Survivor Study ( CCSS ), funded by the National ...

  7. Improved final height in girls with Turner's syndrome treated with growth hormone and oxandrolone

    OpenAIRE

    Karlberg, J; Nilsson, KO; AlbertssonWikland, K; Alm, J.; Aronson, S.; Gustafsson, J; Hagenäs, L; Häger, A; Ivarsson, SA; Kriström, B; Marcus, C; Moell, C; Ritzén, M; Tuvemo, T; Wattsgård, C

    1996-01-01

    The spontaneous growth process in Turner's syndrome is characterized by a progressive decline in height velocity during childhood and no pubertal growth spurt. Therefore, therapy aimed at improving height during childhood as well as increasing final height is desirable for most girls with Turner's syndrome. Forty-five girls with Turner's syndrome, 9-16 yr of age (mean age, 12.2 yr), were allocated to three study groups. Group 1 (n = 13) was initially treated with oxandrolone alone; after 1 yr...

  8. The therapeutic effect of monocyte chemoattractant protein-1 delivered by an electrospun scaffold for hyperglycemia and nephrotic disorders

    Directory of Open Access Journals (Sweden)

    Yong C

    2014-02-01

    Full Text Available Cai Yong,2,* Zhengxin Wang,1,* Xing Zhang,3 Xiaomin Shi,1 Zhijia Ni,1 Hong Fu,1 Guoshan Ding,1 Zhiren Fu,1 Hao Yin1,3 1Department of Surgery, Organ Transplant Center, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, People's Republic of China; 2Department of Transplantation, First Affiliated Hospital of Wenzhou Medical College, Wenzhou, People's Republic of China; 3Department of Surgery, University of Chicago, Chicago, IL, USA *These authors contributed equally to this article Abstract: Here, we investigated in diabetic mice the therapeutic effect of monocyte chemoattractant protein-1 (MCP-1, locally delivered by an electrospun scaffold, on transplanted islets. This therapeutic scheme is expected to exert a synergistic effect to ameliorate hyperglycemia and its associated nephrotic disorders. The cumulative amount of MCP-1 released from the scaffold in vitro within a 3-week window was 267.77±32.18 ng, without a compromise in bioactivity. After 8 weeks following the transplantation, the islet population stimulated by MCP-1 was 35.14%±7.23% larger than the non-stimulated islet population. Moreover, MCP-1 increased concentrations of blood insulin and C-peptide 2 by 49.83%±5.29% and 43.49%±9.21%, respectively. Consequently, the blood glucose concentration in the MCP-1 group was significantly lower than that in the control group at week 2 post-surgery. MCP-1 also enhanced the tolerance of sudden oral glucose challenge. The rapid decrease of blood creatinine, urine creatinine, and blood urea nitrogen suggested that the recovery of renal functions compromised by hyperglycemia could also be attributed to MCP-1. Our study shed new light on a synergistic strategy to alleviate hyperglycemia and nephrotic disorders in diabetic patients. Keywords: MCP-1, electrospinning, islet transplantation, diabetes

  9. Efficacy of olanzapine versus methylphenidate treatment for childhood hyperkinetic syndrome%奥氮平与哌醋甲酯治疗儿童多动症效果对照

    Institute of Scientific and Technical Information of China (English)

    郝学儒; 崔文波

    2005-01-01

    BACKGROUND: Attention deficit and hyperkinetic disorder (ADHD) is frequently treated with psychostimulant medications, which had been shown to improve both cognitive and behavioral outcomes for most chil dren. OBJECTIVE: To compare the efficacy and adverse effects of olanzapine vs methylphenidate treatment in childhood hyperkinetic syndrome.DESIGN: Clinical comparative study. SETTING: Department of Psychiatry, Beijing Huilongguan Hospital; De partment of Mental Psychiatry, Shangdong Mouping People's Hospital. PARTICIPANT S: Sixty children with hyperkinetic syndrome from the clinics of the Department of Psychiatry,Beijing Huilongguan Hospital and the Department of Mental Psychiatry of Shandong Mouping People's Hos pital between March 2002 and April 2004 were enrolled into this prospec tive study after obtaining the consents from their guardians.The patients were randomly divided into 2 group: the olanzapine group (n=30) and the methylphenidate group (n=30). METHODS: In the olanzapine group olanzapine 2.5-7.5 mg per day was given as a single dose in every evening.In the methylphenidate group methylphenidate 5-15 mg per day was given in divided dose in every morning and evening.The dosage ofolanzapine and methylphenidate were adjusted according to age, body mass and patient's clinical condi tions. And the period of treatment for either drug was 12 weeks. Conners teachers scale was used before and at the end of the 12 weektreatment (①hyperkinetic index consisted of 10 items②hyperkinetic behavior factor consisted of 7 items. Each item was rated “none=0, a little=1, quite a lot=2, and very much=3 ). Side effect scale was used to evaluate the hy perkinetic symptom and adverse reactions which consisted of behavior toxicity, abnormal laboratory tests , symptoms of the nervous system, au tonomic nervous system, cardiovascular system and skin etc with. 0=none; 1 =suspicious or very mild, 2=mild, 3 =moderate, 4=severe. The highest score was 22,and the lowest was 0 with a

  10. Total Marrow and Lymphoid Irradiation and Chemotherapy Before Donor Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Leukemia

    Science.gov (United States)

    2016-08-10

    Adult Acute Lymphoblastic Leukemia in Complete Remission; Acute Myeloid Leukemia in Remission; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Childhood Acute Lymphoblastic Leukemia in Complete Remission

  11. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  12. Late endocrine effects of childhood cancer.

    Science.gov (United States)

    Rose, Susan R; Horne, Vincent E; Howell, Jonathan; Lawson, Sarah A; Rutter, Meilan M; Trotman, Gylynthia E; Corathers, Sarah D

    2016-06-01

    The cure rate for paediatric malignancies is increasing, and most patients who have cancer during childhood survive and enter adulthood. Surveillance for late endocrine effects after childhood cancer is required to ensure early diagnosis and treatment and to optimize physical, cognitive and psychosocial health. The degree of risk of endocrine deficiency is related to the child's sex and their age at the time the tumour is diagnosed, as well as to tumour location and characteristics and the therapies used (surgery, chemotherapy or radiation therapy). Potential endocrine problems can include growth hormone deficiency, hypothyroidism (primary or central), adrenocorticotropin deficiency, hyperprolactinaemia, precocious puberty, hypogonadism (primary or central), altered fertility and/or sexual function, low BMD, the metabolic syndrome and hypothalamic obesity. Optimal endocrine care for survivors of childhood cancer should be delivered in a multidisciplinary setting, providing continuity from acute cancer treatment to long-term follow-up of late endocrine effects throughout the lifespan. Endocrine therapies are important to improve long-term quality of life for survivors of childhood cancer. PMID:27032982

  13. Dissociative experiences as mediators between childhood trauma and auditory hallucinations.

    Science.gov (United States)

    Perona-Garcelán, Salvador; Carrascoso-López, Francisco; García-Montes, José M; Ductor-Recuerda, María Jesús; López Jiménez, Ana Ma; Vallina-Fernández, Oscar; Pérez-Álvarez, Marino; Gómez-Gómez, María Teresa

    2012-06-01

    The purpose of this work was to study the relationship between reported traumatic experiences in childhood and positive psychotic symptoms. We hypothesized that dissociative experiences were potential mediators between childhood trauma and hallucinations, but not delusions. The sample comprised 71 patients diagnosed with psychoses. They were assessed with the Dissociative Experiences Scale (DES-II; Carlson & Putnam, 1993), a questionnaire on trauma (TQ; Davidson, Hughes, & Blazer, 1990), and the Positive and Negative Syndrome Scale (PANSS; Kay, Opler, & Lindenmayer, 1988) delusions and hallucinations items. The results showed that childhood trauma was positively associated with the dissociation scale scores (r = .40) and also the hallucination (r = .36) and delusions scale scores (r = .32). Furthermore, it was demonstrated that the dissociation variable was a potential mediator between childhood trauma and hallucinations, but not between childhood trauma and delusions. Of the 3 DES-II factors, only depersonalization showed a mediating relationship between childhood trauma and hallucinations. The main conclusion is that the impact of childhood trauma on hallucinations may not simply be direct, but mediated by dissociative experiences, especially depersonalization. Clinical implications are also briefly discussed. PMID:22589015

  14. Childhood Obesity. ERIC Digest.

    Science.gov (United States)

    Summerfield, Liane M.

    In this discussion of childhood obesity, the medical and psychological problems associated with the condition are noted. Childhood obesity most likely results from an interaction of nutritional, psychological, familial, and physiological factors. Three factors--the family, low-energy expenditure, and heredity--are briefly examined. Early…

  15. Reframing Early Childhood Leadership

    Science.gov (United States)

    Stamopoulos, Elizabeth

    2012-01-01

    Rapid changes in Australian education have intensified the role of early childhood leaders and led to unprecedented challenges. The Australian Curriculum (ACARA, 2011), mandated Australian "National Quality Framework" (NQF) for Early Childhood Education & Care (DEEWR, 2010b) and the "National Early Years Learning Framework" (EYLF) (DEEWR, 2009)…

  16. Tourette syndrome.

    Science.gov (United States)

    Cavanna, Andrea E; Termine, Cristiano

    2012-01-01

    Tourette syndrome (TS) is a neurodevelopmental disorder consisting of multiple motor and one or more vocal/phonic tics. TS is increasingly recognized as a common neuropsychiatric disorder usually diagnosed in early childhood and comorbid neuropsychiatric disorders occur in approximately 90% of patients, with attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) being the most common ones. Moreover, a high prevalence of depression and personality disorders has been reported. Although the mainstream of tic management is represented by pharmacotherapy, different kinds of psychotherapy, along with neurosurgical interventions (especially deep brain stimulation, DBS) play a major role in the treatment of TS. The current diagnostic systems have dictated that TS is a unitary condition. However, recent studies have demonstrated that there may be more than one TS phenotype. In conclusion, it appears that TS probably should no longer be considered merely a motor disorder and, most importantly, that TS is no longer a unitary condition, as it was previously thought. PMID:22411257

  17. Obesity in childhood and adolescence, genetic factors.

    Science.gov (United States)

    Memedi, Rexhep; Tasic, Velibor; Nikolic, Erieta; Jancevska, Aleksandra; Gucev, Zoran

    2013-01-01

    Obesity and overweight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. The etiology is complex, but most often idiopathic. Hormonal, syndromic and medication-induced obesity are well investigated. Genetic causes are increasingly described. Novel technologies such as whole exome sequencing identify ever more candidate genes influencing or causing obesity. All insights into the complex problem of obesity in a team approach to treatment: diet, psychology, medications and surgery. We briefly review epidemiology, etiology, consequences and treatment approaches in childhood and adolescent obesity, with special emphasis on emerging knowledge of its genetics. PMID:24296635

  18. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  19. Childhood trauma and childhood urbanicity in relation to psychotic disorder

    OpenAIRE

    Frissen, Aleida; Lieverse, Ritsaert; Drukker, Marjan; van Winkel, Ruud; Delespaul, Philippe; [...

    2015-01-01

    Background Urban upbringing and childhood trauma are both associated with psychotic disorders. However, the association between childhood urbanicity and childhood trauma in psychosis is poorly understood. The urban environment could occasion a background of social adversity against which any effect of childhood trauma increases. Also, any impact of the urban environment on likelihood of exposure to childhood trauma could be stronger in children who later develop psychotic disorder. The aim of...

  20. Childhood trauma and childhood urbanicity in relation to psychotic disorder

    OpenAIRE

    Frissen, Aleida; Lieverse, Ritsaert; Drukker, Marjan; van Winkel, Ruud; Delespaul, Philippe; Cahn, W.

    2015-01-01

    BACKGROUND: Urban upbringing and childhood trauma are both associated with psychotic disorders. However, the association between childhood urbanicity and childhood trauma in psychosis is poorly understood. The urban environment could occasion a background of social adversity against which any effect of childhood trauma increases. Also, any impact of the urban environment on likelihood of exposure to childhood trauma could be stronger in children who later develop psychotic disorder. The aim o...

  1. Rett and ICF syndromes: methylation moves into medicine

    OpenAIRE

    Kumar, Arun

    2000-01-01

    Two human genetic disorders, Rett and ICF syndromes, have recently been shown to be caused by mutations in genes encoding proteins involved in gene silencing through DNA methylation. Rett (RTT) syndrome is a progressive childhood neurodevelopmental disorder that affects females exclusively with an incidence of 1 in 10,000–15,000 female births.

  2. Kindler′s syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Neelam Suman

    2014-01-01

    Full Text Available Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.

  3. Multispectral Brain Morphometry in Tourette Syndrome Persisting into Adulthood

    Science.gov (United States)

    Draganski, Bogdan; Martino, Davide; Cavanna, Andrea E.; Hutton, Chloe; Orth, Michael; Robertson, Mary M.; Critchley, Hugo D.; Frackowiak, Richard S.

    2010-01-01

    Tourette syndrome is a childhood-onset neuropsychiatric disorder with a high prevalence of attention deficit hyperactivity and obsessive-compulsive disorder co-morbidities. Structural changes have been found in frontal cortex and striatum in children and adolescents. A limited number of morphometric studies in Tourette syndrome persisting into…

  4. Family Environment and Behavior Problems in Children, Adolescents, and Adults with Fragile X Syndrome

    Science.gov (United States)

    Greenberg, Jan S.; Seltzer, Marsha Mailick; Baker, Jason K.; Smith, Leann E.; Warren, Steven F.; Brady, Nancy; Hong, Jinkuk

    2012-01-01

    We examine how the family environment is associated with aspects of the Fragile X syndrome phenotype during childhood, adolescence, and adulthood. Mothers of children (n = 48), adolescents (n = 85), and adults (n = 34) with Fragile X syndrome participated in a multisite study. For children and adults with Fragile X syndrome, the presence of warmth…

  5. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. PMID:26778511

  6. Origins of Epilepsy in Fragile X Syndrome

    OpenAIRE

    Hagerman, Paul J.; STAFSTROM, CARL E

    2009-01-01

    Fragile X syndrome is the leading heritable form of cognitive impairment and the leading known monogenic disorder associated with autism. Roughly one-quarter of children with this disorder have seizures, most of which are relatively benign and are resolved beyond childhood. Because of the prevalence of fragile X syndrome, numerous animal models have been developed and electrophysiological studies have taken place to investigate its pathogenesis. The investigations have yielded a wealth of inf...

  7. Sweet syndrome revealing systemic lupus erythematosus.

    LENUS (Irish Health Repository)

    Quinn, N

    2015-02-01

    Sweet Syndrome is an acute inflammatory skin eruption which is rare in children. We report a case of childhood Systemic Lupus Erythematosus (SLE) that presented with Sweet syndrome. This case is a unique presentation of a common disorder which provides a new facet for the differential diagnosis of SLE in children. It is also the first paediatric case to be reported in a Caucasian child.

  8. Childhood cancer in Africa.

    Science.gov (United States)

    Kruger, Mariana; Hendricks, Marc; Davidson, Alan; Stefan, Cristina D; van Eyssen, Ann L; Uys, Ronelle; van Zyl, Anel; Hesseling, Peter

    2014-04-01

    The majority of children with cancer live in low- and middle-income countries (LMICs) with little or no access to cancer treatment. The purpose of the paper is to describe the current status of childhood cancer treatment in Africa, as documented in publications, dedicated websites and information collected through surveys. Successful twinning programmes, like those in Malawi and Cameroon, as well as the collaborative clinical trial approach of the Franco-African Childhood Cancer Group (GFAOP), provide good models for childhood cancer treatment. The overview will hopefully influence health-care policies to facilitate access to cancer care for all children in Africa. PMID:24214130

  9. Munchausen syndrome by proxy abuse: a foundation for adult Munchausen syndrome.

    Science.gov (United States)

    Conway, S P; Pond, M N

    1995-09-01

    Symptoms fabricated by the mother, and abnormal maternal pressurising of medical staff, resulted in misinterpretation of sweat test results and a diagnosis of cystic fibrosis in a two year old child. Her mother refused to accept later medical evidence which irrefutably showed this diagnosis to be wrong. The child was extensively investigated and for most of her childhood was treated for pancreatic malabsorption. She progressed from an innocent child victim of Munchausen Syndrome by Proxy abuse to an accomplice in her mother's deception, and finally to adult Munchausen Syndrome behaviour. Munchausen Syndrome by Proxy abuse may programme a child into developing adult Munchausen Syndrome. PMID:8573056

  10. Joubert Syndrome

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome Information Page Table of Contents (click to ... Organizations Related NINDS Publications and Information What is Joubert Syndrome? Joubert syndrome is a rare brain malformation ...

  11. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  12. Hoffmann syndrome: a case report

    OpenAIRE

    Senanayake, Hemal MS; Dedigama, Anujaya D; De Alwis, Randil P; Thirumavalavan, Kanapathipillai

    2014-01-01

    Hoffmann syndrome is a rare form of hypothyroid myopathy in adults characterized by presence of muscle weakness, stiffness and pseudohypertrophy. We report a 39 year old male with primary hypothyroidism diagnosed at childhood and not on regular thyroxine therapy who presented with fatigue, cold intolerance, constipation, exertional breathlessness, progressive proximal muscle weakness and swelling of the legs for one year. Examination revealed pseudohypertrophy of calf muscles with marked symm...

  13. Senior Loken Syndrome

    Directory of Open Access Journals (Sweden)

    F Najafi

    2011-02-01

    Full Text Available The etiology of ESRD under the age of 20 almost is the inherited kidney disease or congenital disorders of urinary tract. NPHP/ medullary cystic disease includes a group of tubulo- genetic kidney disorders. NPHP is the cause of 15-20% ESRD in children and adolescents. The extra renal manifestations include: oculomotor Apraxia(Cogan syndrome, mental retardation, retinitis pigmentosa, (Senior- Loken syndrome liver fibrosis and skeletal disorders. Recently, on the basis of genetics and type of the protein product of these mutations, NPHP is divided to 6 types. The presented case is a 17 year old boy with end stage renal disease that he has been managed with hemodialysis. As the patient has polyuria and disturbance in vision from childhood and on physical examination he had retinitis pigmentosa and horizontal nystagmus with a history of chronic kidney disease in his 12 years old sister, and familial marriage between his parents, we suggest NPHP4 for the patient.

  14. Cardiovascular Conditions of Childhood

    Science.gov (United States)

    ... This childhood illness can result in long-term heart complications. Learn the symptoms, diagnosis and treatment for Kawasaki disease. Rheumatic Fever This inflammatory infection can occur after strep ...

  15. Reducing Childhood Obesity

    Science.gov (United States)

    ... Bar Home Current Issue Past Issues Reducing Childhood Obesity Past Issues / Summer 2007 Table of Contents For ... Ga. were the first three We Can! cities. Obesity Research: A New Approach The percentage of children ...

  16. Childhood Immunization Schedule

    Science.gov (United States)

    ... Why Immunize? Vaccines: The Basics Instant Childhood Immunization Schedule Recommend on Facebook Tweet Share Compartir Get the ... See Disclaimer for additional details. Based on Immunization Schedule for Children 0 through 6 Years of age ...

  17. Childhood vitiligo: Treatment paradigms

    Directory of Open Access Journals (Sweden)

    Amrinder Jit Kanwar

    2012-01-01

    Full Text Available Childhood vitiligo differs from the adults by showing a higher incidence in females, segmental vitiligo being more common and less frequent association with other systemic autoimmune and endocrine disorders.Childhood vitiligo is often associated with a marked psychosocial and long lasting effect on the self-esteem of the affected children and their parents, hence an adequate treatment is very essential. Treatment of vitiligo is indeed a tough challenge for the dermatologists′ more so in the background of childhood vitiligo. Although multiple therapeutic modalities are available in the therapeutic armamentarium, not all can be used in children. This brief report updates regarding various therapies available in the treatment of childhood vitiligo.

  18. Childhood Vaccine Schedule

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Childhood Vaccine Schedule Past Issues / Spring 2008 Table of Contents ... please turn Javascript on. When to Vaccinate What Vaccine Why Birth (or any age if not previously ...

  19. Tooth decay - early childhood

    Science.gov (United States)

    ... Ribeiro NM, Ribeiro MA. Breastfeeding and early childhood caries: a critical review. J Pediatr (Rio J) . 2004;80:S199-S210. Sexton S, Natale R. Risks and benefits of pacifiers. Am Fam Physician . 2009; ...

  20. Insomnia is a frequent finding in adults with Asperger syndrome

    OpenAIRE

    von Wendt Lennart; Nieminen-von Wendt Taina; Lindberg Nina; Tani Pekka; Alanko Lauri; Appelberg Björn; Porkka-Heiskanen Tarja

    2003-01-01

    Abstract Background Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable th...

  1. Early Childhood Caries

    OpenAIRE

    Kawashita, Yumiko; Kitamura, Masayasu; Saito, Toshiyuki

    2011-01-01

    Dental caries is one of the most common childhood diseases, and people continue to be susceptible to it throughout their lives. Although dental caries can be arrested and potentially even reversed in its early stages, it is often not self-limiting and progresses without proper care until the tooth is destroyed. Early childhood caries (ECC) is often complicated by inappropriate feeding practices and heavy infection with mutans streptococci. Such children should be targeted with a professional ...

  2. Endobronchial tumours in childhood

    International Nuclear Information System (INIS)

    Endobronchial tumours are rare in childhood and are not often considered in the differential diagnosis of persistent pneumonitis and atelectasis. We present the clinical and radiological features of seven cases of childhood bronchial 'adenoma' seen at our hospital over a 16-year period. Because they are relatively slow growing, prompt diagnosis and early surgical treatment offer the best chance of cure in these patients. A review of the literature is given

  3. Abdominal MRI in childhood

    International Nuclear Information System (INIS)

    MRI provides diagnostic information in multiple abdominal diseases in childhood. Additional information to sonographic findings can be achieved in the diagnosis of abdominal malformation as well as in several inflammatory processes. In childhood cancer imaging MRI is essential at the beginning as well as during therapy to assess response to therapy. Because of radiation protection MRI has to replace CT in abdominal imaging in children. Some technical details have to be considered when children are examined. (orig.)

  4. Meningeal hemangiopericytoma in childhood

    International Nuclear Information System (INIS)

    Meningeal hemangiopericytoma (MHP) is extremely rare in childhood. Mean age at diagnosis is between 38 and 43 years. We present an 8-year-old boy with MHP of the middle cranial fossa. Imaging findings were indistinguishable from an aggressive bone tumor such as Ewing's sarcoma. Imaging findings are presented and discussed. Our case indicates that MHP should be considered in the differential diagnosis of skull-base tumors despite the fact that MHP is extremely rare in childhood. (orig.)

  5. Endobronchial tumours in childhood

    International Nuclear Information System (INIS)

    Endobronchial tumours are rare in childhood and are not often considered in the differential diagnosis of persistent pneumonitis and atelectasis. We present the clinical and radiological features of seven cases of childhood bronchial 'adenoma' seen at our hospital over a 16-year period. Because they are relatively slow growing, prompt diagnosis and early surgical treatment offer the best chance of cure in these patients. A review of the literature is given. (Copyright (c) Elsevier Science B.V., Amsterdam. All rights reserved.)

  6. Fractures in childhood

    International Nuclear Information System (INIS)

    Clinical diagnosis of fractures in childhood can be very difficult. Therefore imaging, not only x-rays but also ultrasound, computed tomography and magnetic resonance imaging are of special importance. There are typical pediatric types of fractures due to epiphyseal plates and high flexibility of the bone. Fractures heal faster and dislocations can be spontaneously corrected better but also growth disturbance can occur. The second part of the article describes the special types of fractures with special attention to the characteristics in childhood.

  7. Stress and childhood epilepsy

    OpenAIRE

    Campen, J.S. van

    2015-01-01

    Epilepsy is one of the most common chronic diseases in childhood, characterized by the enduring predisposition to generate epileptic seizures. Children with epilepsy and their parents often report seizures precipitated by stress. In order to increase our understanding of the pathophysiological mechanisms underlying the effects of stress on seizures in childhood epilepsy, we performed a variety of studies, which are described in this thesis. In part I we evaluate the extent of stress sensitivi...

  8. Early childhood aggression

    OpenAIRE

    Alink, Lenneke Rosalie Agnes

    2006-01-01

    In this thesis the development, stability, and correlates of early childhood aggression were investigated. The normative development was examined in a general population sample using questionnaires completed by the parents of 12-, 24-, and 36-month-old children and again one year later. Results showed an early childhood aggression curve, with increasing rates of aggression in the second year of life and decreasing rates in the fourth year. One-year stabilities were moderate for 12-month-olds ...

  9. Pesticides and childhood cancers.

    OpenAIRE

    Daniels, J L; Olshan, A.F.; Savitz, D A

    1997-01-01

    To evaluate the possible association between pesticides and the risk of childhood cancers, epidemiologic studies published between 1970 and 1996 were critically reviewed. Thirty-one studies investigated whether occupational or residential exposure to pesticides by either parents or children was related to increased risk of childhood cancer. In general, the reported relative risk estimates were modest. Risk estimates appeared to be stronger when pesticide exposure was measured in more detail. ...

  10. Childhood Ovarian Malignancy

    OpenAIRE

    Mahadik, Kalpana; Ghorpade, Kanchanmala

    2014-01-01

    Objective of this article is to appraise diagnostic aspects and treatment modalities in childhood ovarian tumor in background of available evidence. Literature search on Pubmed revealed various aspects of epidemiology, histopathological diagnosis, and treatment of pediatric ovarian tumor. 85 % of childhood tumors are germ cell tumors. The varied histopathological picture in germ cell tumors poses a diagnostic and therapeutic challenge. Immunohistochemistry and newer genetic markers like SALL4...

  11. Asperger syndrome related suicidal behavior: two case studies

    Directory of Open Access Journals (Sweden)

    Kocourkova J

    2013-11-01

    Full Text Available Jana Kocourkova, Iva Dudova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine, University Hospital Motol, Prague, Czech Republic Abstract: Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. Keywords: Asperger syndrome, suicidal behavior, adolescence

  12. Seizures and Epilepsy in Sotos Syndrome

    OpenAIRE

    J Gordon Millichap

    2012-01-01

    Clinicians from the Child Neurology Division, Sapienza University of Rome, and 7 other pediatric neurology centers in Italy report a series of 19 Sotos syndrome (SS) patients with febrile seizures (FS) and/or epilepsy during childhood and a long-term follow-up.

  13. Tourette Syndrome: Information for School Nurses

    Science.gov (United States)

    Golder, Tracy

    2010-01-01

    Tourette syndrome (TS) is a neurobehavioral disorder that consists of simple and complex tics. This disorder can significantly affect a child's self-esteem and academic success. Although some believe that only adults are affected, this disorder occurs most frequently in early childhood and symptoms decrease with age. Diagnosis of this disorder can…

  14. Williams-Beuren's Syndrome: A Case Report

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem. PMID:22927862

  15. Lifestyle Factors and Migraine in Childhood.

    Science.gov (United States)

    Russo, Antonio; Bruno, Antonio; Trojsi, Francesca; Tessitore, Alessandro; Tedeschi, Gioacchino

    2016-02-01

    Migraine is one of the most common pain symptoms in children. Indeed, a high percentage of adult migraine patients report to have suffered from recurrent headache during the childhood. In particular, children could experience the so-called childhood periodic syndromes (such as cyclic vomiting, abdominal migraine, and benign paroxysmal vertigo) that have been usually considered precursors of migraine or they could develop overt migraine headaches. However, typical cohort of migraine symptoms could be absent and children could not achieve all clinical features necessary for a migraine attack diagnosis according to classification criteria. Nevertheless, migraine is characterized also in childhood by a significant negative impact on the quality of life and a high risk of developing chronic and persistent headache in adulthood. Several studies have emphasized the role of different risk factors for migraine in children. Among these, obesity and overweight, particular food or the regular consumption of alcohol or caffeine, dysfunctional family situation, low level of physical activity, physical or emotional abuse, bullying by peers, unfair treatment in school, and insufficient leisure time seem to be strictly related to migraine onset or progression. Consequently, both identification and avoidance of triggers seem to be mandatory in children with migraine and could represent an alternative approach to the treatment of migraine abstaining from pharmacologic therapies. PMID:26757711

  16. Childhood obesity: Determinants, evaluation, and prevention.

    Science.gov (United States)

    Raychaudhuri, Moutusi; Sanyal, Debmalya

    2012-12-01

    Childhood obesity is a grave issue, which needs to be addressed urgently because it leads to several medical and psychosocial problems in children. High prevalence is being increasingly reported in children from developing countries as well. The combination of our genetic propensity to store fat, the ready availability of calorie dense foods, and sedentary lifestyle promotes overweight. The child's food environment at home and parental obesity are strong determinants. Urban poor in developed countries and urban rich in developing countries are both at risk. In developing countries, a number of beliefs passed down over generations are other important determinants. Evaluation includes assessing the child's lifestyle, excluding weight-promoting medication history; poor linear growth needs endocrine evaluation; genetic syndromes should be considered if there are clinical pointers. Overweight children should be evaluated for hypertension, dyslipidemia, T2DM, and NAFLD. Therapeutic lifestyle changes targeting food habits and physical activity through parental participation and social support are the cornerstones of preventing childhood obesity. Active travel and play by making the built environment more accessible, ban on 'junk' food advertising, and effective health education through active participation of clinicians, school systems, and the media will go a long way in reversing anticipated trends in childhood obesity. PMID:23565376

  17. Childhood obesity: Determinants, evaluation, and prevention

    Directory of Open Access Journals (Sweden)

    Moutusi Raychaudhuri

    2012-01-01

    Full Text Available Childhood obesity is a grave issue, which needs to be addressed urgently because it leads to several medical and psychosocial problems in children. High prevalence is being increasingly reported in children from developing countries as well. The combination of our genetic propensity to store fat, the ready availability of calorie dense foods, and sedentary lifestyle promotes overweight. The child′s food environment at home and parental obesity are strong determinants. Urban poor in developed countries and urban rich in developing countries are both at risk. In developing countries, a number of beliefs passed down over generations are other important determinants. Evaluation includes assessing the child′s lifestyle, excluding weight-promoting medication history; poor linear growth needs endocrine evaluation; genetic syndromes should be considered if there are clinical pointers. Overweight children should be evaluated for hypertension, dyslipidemia, T2DM, and NAFLD. Therapeutic lifestyle changes targeting food habits and physical activity through parental participation and social support are the cornerstones of preventing childhood obesity. Active travel and play by making the built environment more accessible, ban on ′junk′ food advertising, and effective health education through active participation of clinicians, school systems, and the media will go a long way in reversing anticipated trends in childhood obesity.

  18. Factitious proteinuria - the most dominant feature in a young female patient with Munchausen syndrome.

    Science.gov (United States)

    Lela, Ivana Vuković; Karanović, Sandra; Matišić, Danica; Kuzmanić, Duško; C Orić, Marijana; Šimić, Mirjana; Jelaković, Bojan

    2013-02-01

    Munchausen syndrome is a factitious disorder with predominantly physical signs and symptoms, resulting from the patient's high motivation for assuming a sick role, without any external incentives or boundaries. We report the case of a young female patient with factitious proteinuria in the nephrotic range and a fairly eventful medical history. After performing many expensive and unnecessary investigations and procedures,the real origin of the proteinuria was determined;it was found to be caused by the patient carefully adding calibrated egg albumin to her urine samples. This discovery roused suspicions about multiple, non-corroborated conditions from her history (e.g., multiple miscarriages, breast cancer, and thyroid disorders).The diversity of diseases presented by a single Munchausen patient tends to be bizarre,and thus is a challenge for health care providers to diagnose the condition. Teamwork is therefore of the utmost necessity to diagnose Munchausen syndrome. PMID:23364208

  19. ALSTROM SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shivakumar

    2015-11-01

    Full Text Available Alstrom Syndrome was first described by Carl Henry Alstrom in 1959. The key features include childhood onset obesity, congenital retinal dystrophy leading to blindness, sensori-neural deafness. The associated endocrinologic aspects are early onset type 2 Diabetes Mellitus, hyperinsulinemia, hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS.The normal protein is present at very low levels in most tissues. The mutation results in a non-functional protein, explaining the various signs and symptoms of Alstrom’s. Here we report on a case with Alstrom Syndrome at the age of 28 years. She came with the complaints of generalised swelling of the body, breathlessness, decreased urine output with a significant past history of visual and hearing impairment, diabetes, hypertension, and recurrent urinary tract infections. Awareness of Alstrom Syndrome is lacking despite the complexity and lethality of this disorder. Thus Alstrom Syndrome can be thought of as a rare genetic disorder with several feature similar to metabolic syndrome. It is a rare disease and difficult to make differential diagnosis with other similar syndromes, therefore this case will be a good example of Alstrom Syndrome for the literature.

  20. Abdominal migraine in childhood: a review

    Directory of Open Access Journals (Sweden)

    Scicchitano B

    2014-08-01

    Full Text Available Beatrice Scicchitano,1 Gareth Humphreys,1 Sally G Mitton,2 Thiagarajan Jaiganesh1 1Children's Emergency Department, 2Department of Paediatric Gastroenterology, St Georges Hospital, St Georges Healthcare NHS Trust, Tooting, London, United Kingdom Abstract: The childhood condition of abdominal migraine has been described under many different synonyms, including "abdominal epilepsy", "recurrent abdominal pain", "cyclical vomiting syndrome", and "functional gastrointestinal disorder". In the early literature, abdominal migraine is included in the "childhood periodic syndrome", first described by Wyllie and Schlesinger in 1933. Abdominal migraine has emerged over the last century as a diagnostic entity in its own right thanks to the development of well defined diagnostic criteria and its recent inclusion in the International Headache Society's Classification of Headache disorders. Despite this progress, little is known about the pathophysiology of the condition, and the treatment options are poorly defined. Here we summarize the recent literature, with particular focus on establishing the diagnosis of abdominal migraine and its pathophysiology, and suggest an approach to management. Keywords: abdominal migraine, recurrent abdominal pain, abdominal epilepsy, cyclical vomiting