SERUM OSTEOCALCIN LEVELS IN TYPE-I DIABETES-MELLITUS

Serum osteocalcin levels are a marker of bone formation. In this study, bone and mineral metabolism in type I diabetes mellitus (DM) were investigated, and the changes related to diabetic microvascular complications were examined. Serum calcium (Ca), inorganic phosphate (P), osteocalcin (OC) and parathyroid hormone (PM) levels were measured in 42 type I diabetic subjects. Diabetics were subdivided into those with or without complications. Age and sex-matched control subjects were used for comparisons with the diabetic groups. Serum P and PTH levels were not different from those of controls. Serum Ca levels were significantly increased (p < 0.001) although the values were within the normal range. CC levels were significantly lower in the complicated (retinopathy and/or protenuria) diabetic group (p < 0.005). In Type I diabetes mellitus, the serum OC level is influenced by the presence of microvascular complications

Flow-cytometric comparison of RNA content in peripheral blood mononuclear cells of down syndrome patients and control individuals

Objective: Trisomy 21 or Down syndrome (DS) is the most common genetic cause of mental retardation associated with the immunologic and other known defects. Extra chromosome 21 of DS patients contains an average of 40 extra copies of rRNA genes and the in vivo regulation of these genes' activity is not known. Because over 80% of total cellular RNA is rRNA, the measurement of total cellular RNA provides information on rRNA content. The aim of this work was to determine whether or not the additional chromosome 21 causes any increase in total cellular RNA content in mononuclear cells from peripheral blood (PBMNCs) of these patients and whether or not this content is modified with age

Levetiracetam monotherapy in newly diagnosed cryptogenic west syndrome

The combination of axial spasms in clusters, hypsarrhythmia, and psychomotor delay beginning in the first year of life defines West syndrome. Adrenocorticotrophic hormone remains the choice of treatment for many neurologists. Recent controlled studies support vigabatrin as first-line therapy, and open-label studies suggest that topiramate, lamotrigine, and zonisamide may be useful in treating spasms. Studies regarding the efficacy and safety of such treatments often come from small, uncontrolled trials and are often inconclusive. Levetiracetam is effective for treating localization-related epilepsy, but it is uncertain whether it is effective for treating West syndrome. To evaluate the efficacy of levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome, levetiracetam was used initially in the treatment of five patients with cryptogenic West syndrome. On admission, levetiracetam (30 mg/kg) tablets were crushed and administered via nasogastric tube. Two patients were seizure free, two patients experienced a 50% reduction in seizure frequency, and one patient had no improvement in seizure frequency. There were no relapses in the two patients at 6 months after the cessation of seizures. It appears that levetiracetam may be effective in the initial treatment of selected patients with cryptogenic West syndrome. (C) 2007 by Elsevier Inc. All rights reserved

Joubert syndrome: review and report of seven new cases

Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS

Transient sixth nerve palsies and torticollis secondary to parietal arteriovenous malformation

Arteriovenous malformations (AVMs) can compress on any intracranial structures, and the presence and nature of ophthalmologic symptoms and signs depend on the size and location of the AVMs. We report an 11-month-old girl with parietal fistulous AVM, transient bilateral sixth nerve palsies and torticollis. The postoperative period was uneventful and she was discharged in a good condition. The patient recovered from transient bilateral abducens nerve palsies and torticollis; she was asymptomatic during the 18-month follow-up period. Copyright (c) 2007 S. Karger AG, Basel

Molybdenum cofactor deficiency: Clinical features in a Turkish patient

The molybdenum cofactor is. essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischaemic encephalopathy. Although milder cases with later onset and less severe symptoms have been identified, the classic presentation involves neonatal seizures, progressive encephalopathy and death at an early age. There is currently no effective therapy, and the prognosis is poor. The disorder should be considered in all cases of intractable seizures in the newborn period and infants with clinical and radiological features of ischaemic encephalopathy, especially when no obvious lesion is detected. Blood uric acid measurement should be included in the battery of tests to be performed in all neonates' refractory seizures. We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c. I 30C > T in cDNA of the MOCS2 gene from the infant. (C) 2006 Elsevier B.V. All rights reserved

Cutaneous anthrax involving the genital area

A 5-year-old girl was admitted with a lesion of the labia majora which was found to be owing to anthrax. She had been licked on the hand by a sick cow (which subsequently died) 5 days prior to admission to a health clinic and 8 days before admission to hospital

Joubert syndrome: Report of a neonatal case

Joubert syndrome is an autosomal recessive disorder that is characterized by a variable combination of central nervous system, respiratory and eye anomalies. It is a syndrome with a variable phenotype: partial or complete absence of the cerebellar vermis is seen in all patients, while other cardinal findings include episodic tachypnea and apnea in the neonatal period, jerky eye movements, hypotonia, severe mental handicap, developmental delay, ataxia and impaired equilibrium. Even within sibships the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of Joubert syndrome. A case of Joubert syndrome in a newborn is reported and the importance of recognizing the syndrome in the neonatal period so that specific and effective supportive measures can be started as soon as possible is stressed

Iatrogenic epidermoid tumor: Late complication of lumbar puncture

Intraspinal epidermoid tumors can be congenital and acquired. Acquired intraspinal epidermoid tumors are extremely rare. Epidermal elements are implanted into the arachnoid space by trauma, spinal anesthesia, surgery, bullet wounds, myelography, or lumbar puncture. Approximately 40% of acquired epidermoid tumors are considered a late complication of lumbar puncture. The authors report the case of an 8-year-old boy who presented with a 1-year history of back and hip pain and radiating pain to both thighs posterior. Lumbar puncture was performed in the neonatal intensive care unit to rule out meningitis in the patient's past medical history. The patient underwent total surgical excision of the epidermoid tumor. Pathologic examination revealed the diagnosis of epidermoid tumor