Una nueva mutación asociada con el síndrome de Pierson / A new mutation associated with Pierson syndrome

El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadenaß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98casos y 50mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.

Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa

Peptic Ulcers and Erosions in Children at a Pediatric Unit in Turkey.

Objective: To study the characteristics of peptic ulcer and erosion in pediatric patients. Methods: Over a period of seven years, 1,026 children underwent upper gastrointestinal endoscopy in our pediatric gastroenterology unit. Results: Peptic ulcers and erosions were found in 59 (7.2%) patients [ulcers in 42 (5.1%) and erosions in 17 (2.1%)]. Thirty (50.9%) children presented with acute upper gastrointestinal bleeding. Helicobacter pylori positivity was found in 27 patients (45.8%), and ulcerogenic medication use was found in 13 (22%) patients. Conclusion: The main risk factors for childhood peptic ulcer and erosions were H. pylori infection and non-steroidal anti-inflammatory drug use.

Evaluation of Advanced Oxidation Protein Products, Prooxidant-Antioxidant Balance, and Total Antioxidant Capacity in Untreated Vitiligo Patients

BACKGROUND: Vitiligo is a chronic, common disease of unknown etiology, and oxidative stress is suggested to have a role in its etiopathogenesis. OBJECTIVE: Advanced oxidation protein products (AOPPs), prooxidant-antioxidant balance (PAB), and ferric-reducing antioxidant power (FRAP) were evaluated regarding their role in the pathogenesis of vitiligo as well as their relationship with clinical presentation and disease severity, and these parameters were compared with those of healthy controls. METHODS: The study included 53 patients with vitiligo and 20 healthy volunteers as the control group. AOPP level, PAB, and FRAP were determined by colorimetric methods. RESULTS: PAB and FRAP level were significantly higher in patients with vitiligo than in healthy controls (p<0.001). The AOPP levels in vitiligo patients were not statistically significantly higher than those in healthy controls. The Vitiligo Area Scoring Index positively correlated with disease duration (r(s): 0.531, p<0.001). CONCLUSION: To the best of our knowledge, this is the first report of AOPP and PAB status in vitiligo. PAB may be used as an indicator for oxidative stress in the etiopathogenesis of vitiligo. Our results show that these parameters may play a major role in the melanocyte damage observed in vitiligo. Further studies are required to confirm the mechanisms underlying this effect.

Turkish PASE: Turkish Version of the Psoriatic Arthritis Screening and Evaluation Questionnaire

BACKGROUND: Psoriatic arthritis (PsA) is an inflammatory arthritis associated with psoriasis and causes irreversible joint damage, unless detected early and treated with systemic drugs. OBJECTIVE: There is no reliable tool for screening PsA among Turkish psoriasis patients. Therefore, we aimed to validate the psoriatic arthritis screening and evaluation (PASE) questionnaire in the Turkish. METHODS: A 15-item Turkish PASE questionnaire was administered to 122 consecutive psoriasis patients who visited our dermatology clinic for routine evaluations. Then, the patients were evaluated for PsA by a rheumatologist who was blinded to the results of the questionnaire. RESULTS: Among the 113 patients who participated in the study, 11.5% (13 of 113) had a diagnosis of PsA. The Turkish PASE total scores ranged from 15 to 67 (possible range, 15~75). The median total score was 49 (25th and 75th percentile, 36 and 50) for the PsA group and 35 (25th and 75th percentile, 27 and 42) for the non-PsA group. The median total score of the PsA group was significantly higher than that of the non-PsA group (p=0.33). The Turkish PASE total score of 44 distinguished PsA from non-PsA participants, with 62% sensitivity and 76% specificity. For further analysis of each question, we counted the responses according to symptoms (positive for "agree" and "strongly agree" and negative for "disagree" and "strongly disagree"), and the sensitivity ranged from 23% (third question of the functions subscale) to 77% (second question of the symptoms subscale, first and fifth questions of the functions subscale) and the specificity ranged from 51% (second question of the symptoms subscale) to 87% (fourth question of the functions subscale). No relation was found between the PASI scores and the presence (p=0.899) or absence (p=0.941) of PsA, as well as between the PASI and PASE scores of each patient (p=0.961). CONCLUSION: Thirteen of the 15 items demonstrated significant test-retest reliability as assessed with the Spearman correlation coefficient (p<0.05). These results show that the Turkish version of the PASE questionnaire may be useful for identifying PsA patients for inclusion in trials; however, it is not a reliable tool for screening PSA patients in a dermatology clinic.

importance of endometrial nerve fibers and macrophage cell count in the diagnosis of endometriosis

Endometriosis is a disease that is hard to diagnose without the gold standard method, laparoscopy. An easier diagnostic method is needed. The aim of the study is to determine whether the number of macrophage cells in the endometrium and/or the detection of nerve fibers can be used in the diagnosis of endometriosis. Endometrial sampling was done to 31 patients prior to laparoscopy [L/S] or laparotomy [L/T] at Istanbul University Istanbul School of Medicine Hospital between January 2010 February 2011. Also 34 patients who were retrospectively chosen from their files were added to the study. 5 patients were excluded from the study. Totally, 31 patients were placed in the endometriosis and 29 patients in the control group. Endometrial samples were evaluated immunohistochemically with the markers protein gene product 9.5 [PGP 9.5] and neurofilament [NF] for nerve fibers and CD68 for macrophages. None of the samples were stained with PGP 9.5 and NF. As for CD68+cells, no statistically significant difference was observed between groups [endometriosis: 216.10 +/- 104.41; control: 175.93 +/- 43.05, p=0.06]. Results were also evaluated in the subgroups of menstruel phases and disease stages. Only in the proliferative phase there was a significant increase in the endometriosis group [p=0.03]. No significant difference was observed between the stages. The detection of nerve fibers in the eutopic endometrium with the markers of PGP 9.5 and NF is not found to be helpful in the diagnosis of endometriosis. Macrophage cells may be helpful in the diagnosis only in the proliferative phase.

Evaluation of the cases with acute disseminated encephalomyelitis.

All of the cases were reevaluated with systemic and neurological examinations, serologic tests, cerebrospinal fluid investigations, magnetic resonance imaging. Age ranged between 2.5 and 16 years. Five of the cases had initial infections. Patients presented most often with motor deficits (75%), secondly with loss of consciousness (33%), and seizures (33%). Spinal fluid abnormalities occurred in 41.6%. Cranial, and spinal magnetic resonance imaging (MRI) revealed hyperintense signal changes mainly in basal ganglia and thalamus (58%), cortical and subcortical areas (33) in T2 weighted images. Myelitis was determined in two cases. Six patients were treated with steroid, and 3 were treated with intravenous immunoglobulin. Ten patients recovered completely. We observed relapse in one case and recurrence in two cases. These cases responded well to high dose intravenous prednisolone followed by oral prednisolone for 6 months.

The evaluation of the cases with acute disseminated encephalomyelitis.

OBJECTIVE: We aimed to describe the epidemiologic, clinical, laboratory features, neuroimaging, treatment, and outcome of children with acute disseminated encephalomyelitis in a cohort study. METHODS: In this study, twelve children who were diagnosed as acute disseminated encephalomyelitis were reviewed retrospectively. All of the cases were reevaluated with systemic and neurological examinations, serologic tests, cerebrospinal fluid investigations, magnetic resonance imaging. RESULT: Their age ranged between 2.5 and 16 years. Five of the cases had initial infections. Patients presented most often with motor deficits (75%), secondly with loss of conscious (33%), and seizures (33%). Spinal fluid abnormalities occurred in 41.6%. Cranial, and spinal magnetic resonance imaging (MRI) revealed hyperintense signal changes mainly in basal ganglia and thalamus (58%), cortical and subcortical areas (33) in T2 weighted images. Myelitis was determined in two cases. Six patients were treated with steroid, and 3 were treated with intravenous immunoglobulin. Ten patients recovered completely. We observed relapse in one case and recurrence in two cases. These cases responded well to high dose intravenous prednisolone followed by oral prednisolone for 6 months. CONCLUSION: Outlook recovery is generally good in acute disseminated encephalomyelitis. Recurrence and neurological deficits are rarely seen. Early treatment of prednisolone is one of the most important factors to determine the prognosis in this disease.

Reflex sympathetic dystrophy in childhood.

Reflex sympathetic dystrophy is characterized by constant burning pain and hyperesthesia in an extremity. Lower extremities are usually affected. Pain is accompanied by swelling, sweating, vasomotor instability and sometimes trophic changes. There may be a history of minor injury or not. Muscle spasms, myoclonus or focal dystonia may occur. Diffuse pain, loss of function and autonomic dysfunction are three main criteria suggested for diagnosis. Symptoms can last a few days to as long as a year. In this report we present a girl with multiple limb involvement of stage I RSD. The sympathetic skin responses were tested during a remission period. She had milder attacks with a recurrence rate of 4 per year in the following three years from onset.

Complications of varicella zoster.

Primary infection with varicella zoster is characterzed by a generalized vesicular rash usually without significant systemic illness. Encephalitis, pneumonitis, pancreatitis, nephritis, Reye and Guillan-Barre syndrome transvers myelitis, myocarditis have been reported before, but there is not any case having all these system to be involved during the same infection in a sequential manner ending up with multiorgan failure. We wanted to represent 21-month-old boy had a multiorgan failure due to varicella zoster infection.

Neonatal cerebral venous thrombosis coexisting with bilateral adrenal hemorrhage.

We report a case of severe perinatal asphyxia with both cerebral venous thrombosis and adrenal hemorrhage who survived with severe sequela including multicystic encephalomalasia, acquired microcephaly and blindness. Hematological investigations showed normal levels of anticardiolipin antibodies, protein C and S levels and activity, antithrombin III levels. Factor V Leiden mutation was negative. The adrenal hemorrhage resolved within three months with glucocorticoid therapy, the cerebral venous thrombosis resolved within two months without treatment. The literature on neonatal cerebral venous thrombosis is also reviewed.

Methyl-prednisolone in neurologic complications of Mycoplasma pneumonia.

In patients with Mycoplasma pneumonia extrapulmonary manifestations such as encephalitis, meningitis, cerebellar and brain stem involvement, cranial nerve lesions, peripheral neuropathy, polymyositis have been observed. We report a 16-year-old girl with M. pneumonia infection, acute behavioral changes and coma. Treatment with high dose methyl-prednisolone and clarithromycin led to rapid clinical improvement.