A different technique for the closure of trocar sites.

UNLABELLED: This study aims to present a different technique for the closure of trocar sites in laparoscopic surgeries. MATERIALS AND METHODS: Retrospective records of cases who received the new closure technique were collected. Multifilament synthetic absorbable suture was used in this technique, with no additional tools. RESULTS: This technique was applied in a total of ten cases, which included myomectomy, hysterectomy, sacrocolpopexy, and ectopic pregnancy. No intraoperative and postoperative complications were seen in any of the cases. CONCLUSION: This new and relatively easy-to-use technique can be used as an alternative technique for the closure of trocar sites in laparoscopy.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease is an early onset dysmyelinating leukodystrophy. About 80% of PMD cases have been associated with duplications and mutations of the proteolipid protein 1 (PLP1) gene. Pelizaeus-Merzbacher-like disease is a genetically heterogeneous autosomal recessive disease and rarely caused by mutations in gap junction protein α12 (GJA12/GJC2) gene. The molecular basis of the disease was investigated in a cohort of 19 Turkish families. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations at least in our cohort, and suggested further genetic heterogeneity.

Operative hysteroscopy preserving virginity: a new technique.

OBJECTIVE: To present a new technique of virginity-preserving operative hysteroscopy in the treatment of intrauterine pathologies. MATERIALS AND METHODS: The details of operative hysteroscopy in which the hymenal orifice was left intact to preserve virginity are presented. The technique briefly involved the following steps: holding the cervix with a tenaculum and its traction to the immediate posterior hymenal opening with use of office hysteroscopy, which was then followed by operative conventional hysteroscopy. RESULTS: The technique was performed successfully in all patients with an annular hymenal morphology. The technique enabled complete resection of intrauterine pathologies in all cases. There was no case of inadvertent hymenal injury during the procedure. CONCLUSION: The presented technique, makes it possible to easily treat intrauterine pathologies while preserving the hymen. It can be preferred in groups of patients in whom it is necessary to preserve virginity.

Two cases with progressive cystic leukoencephalopathy.

Leukoencephalopathies with cystic changes in the white matter on magnetic resonance imaging are aetiologically heterogeneous neurological disorders seen in children. A group of leukoencephalopathies characterised by white matter lesions progressing to multifocal cystic degeneration has been reported in various disorders, including mitochondrial enzyme deficiencies, leukodystrophies, and infectious processes. We report two patients with leukoencephalopathy showing progressive cystic changes on serial MRI, and magnetic resonance spectroscopy resembling progressive cavitating leukoencephalopathy.

Seizures during treatment of Vitamin B12 deficiency.

Epileptic seizures during infancy have a wide variety of clinical presentations and the outcome differs according to the etiology. Among the benign and rare causes of infantile seizures, Vitamin B12 deficiency has been encountered. Common symptoms of Vitamin B12 deficiency in infants include megaloblastic anemia, feeding difficulties, developmental delay, microcephaly, failure to thrive, hypotonia, lethargy, irritability, involuntary movements, seizures and cerebral atrophy. Involuntary movements and seizures may rarely be the initial symptoms of Vitamin B12 deficiency. Involuntary movements have also been reported to appear after initiation of Vitamin B12 supplementation in isolated cases, whereas, no such information exits for seizures. In this paper, three infants with Vitamin B12 deficiency associated with motor and mental retardation are reported because of long-lasting focal/multifocal epileptic seizures following the initiation of intramuscular Vitamin B12 treatment. Antiepileptics were introduced in addition to Vitamin B12. Seizures disappeared within a few days or weeks; electroencephalographic findings were normalized in a few months. No relapses occurred during the follow-up period.

Identification of seven novel mutations in the GAN gene.

Giant axonal neuropathy (GAN) is a severe early onset neurodegenerative disorder affecting both the peripheral nerves and the central nervous system. The diagnosis is based on the presence of characteristic giant axons on nerve biopsy. In GAN, the integrity of the intermediate filament network is altered. Indeed, abnormal accumulation of the intermediate filaments has been reported in different cell types, including in the swollen axons, which are filled with neurofilaments. We identified the defective protein, gigaxonin, of unknown function, and reported fourteen distinct mutations in twelve families of various origins. Two additional mutations have been recently reported. In the present study, we analysed the GAN gene in 6 families, and identified seven novel mutations: three nonsense and two missense mutations and two deletions. In addition, the molecular result for an already reported family was re-evaluated. In this family, the R269Q "polymorphism" is in fact the pathogenic mutation.

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.

OBJECTIVE: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a neurometabolic disorder characterized by excessive GABA levels and seizures. There has been no clinical phenotype described to date with heterozygosity for SSADH deficiency. METHODS: A patient heterozygous for SSADH deficiency presented with absence and myoclonic seizures. EEG monitoring and enzymatic, metabolic, and molecular studies for SSADH were obtained on the patient and family members. RESULTS: EEG recordings yielded generalized 3-4 Hz spike-wave paroxysms and trains of multiple spikes in the heterozygous patient, and photosensitivity in the heterozygous patient and parent as well as in the sibling with homozygous deficiency. The heterozygous patient and parents did not manifest 4-OH-butyric aciduria but SSADH levels were low and a splice site mutation of the SSADH gene was identified in each. CONCLUSIONS: Heterozygosity for SSADH deficiency may be associated with an epilepsy syndrome characterized by absence and myoclonic seizures, photoparoxysmal EEG and generalized epileptiform discharges SIGNIFICANCE: Heterozygous SSADH deficiency may be suspected, given an appropriate family history in the setting of an apparently idiopathic generalized epilepsy. Pathogenic explanations may relate to regional elevations in GABA or GHB concentrations.

Siblings with cystic leukoencephalopathy and megalencephaly.

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family.

Neuroimaging findings of four patients with Sandhoff disease.

Sandhoff disease is a severe form of GM2 gangliosidosis that is caused by the deficiency of both hexosaminidase A and B. Startle reaction, hypotonia, psychomotor retardation, and blindness are the main clinical features. Presented are computed tomography and magnetic resonance imaging findings of four patients with Sandhoff disease diagnosed by enzymatic analyses. Bilateral homogeneous thalamic hyperdensity was evident on computed tomography. Magnetic resonance imaging scans revealed mild cortical atrophy, a thin corpus callosum, and abnormal signal intensities in the caudate nucleus, globus pallidum, putamen, cerebellum, and brainstem. No correlation was evident between the severity of the central nervous system imaging findings and the clinical pictures. In this article the neuroimaging findings of four patients with Sandhoff disease are discussed.

MRI and MRS in HMG-CoA lyase deficiency.

3-Hydroxy-3-Methylglutaryl coenzyme A lyase (HMG-CoA) deficiency is a rare inborn error of leucine catabolism. The disease is characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures. This study has evaluated the magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings of three patients with HMG-CoA deficiency. The common findings on all of the MRI scans were multiple, coalescent, marked lesions in periventricular white matter and arcuate fibers, most prominently in frontal or periatrial regions that were superimposed on diffuse, slightly hyperintense subcortical white matter signal. Involvement of the caudate nucleus and the dentate nucleus were observed in the reported patients. MRS studies by both STEAM and PRESS spectra of all patients revealed a decrease in N-acetylaspartate and elevation in both myoinositol and choline. A pathologic peak at 1.33 ppm, which is compatible with lactate, and a particular peak at 2.42 ppm in all patients were also found. The combination of both MRI and MRS findings could be considered as being specific in patients with HMG-CoA lyase deficiency.

The effect of cigarette smoke on the plasma piroxicam concentrations in rats.

The plasma concentration of unchanged piroxicam has been determined at 15, 30, 60 and 90 min after 10 mg kg-1 oral administration of the drug to rats exposed to cigarette smoke or pretreated with phenobarbitone, 3,4-benzpyrene or ethanol. Plasma piroxicam concentrations decreased in rats pretreated with phenobarbitone, 3,4-benzpyrene and ethanol and in rats 24 h after exposure to cigarette smoke.

Ictal and interictal SPECT findings in childhood absence epilepsy.

The purpose of this study was to investigate the informative value of single photon emission tomography (SPECT) in relation to the pathophysiological functioning of the brain during absence seizures and the origin of ictal discharges in idiopathic generalized epilepsies (IGEs). Six patients with childhood absence epilepsy (CAE) were selected for the study and two consecutive SPECT sessions were performed concomitant with EEG recordings revealing normal results and during hyperventilation (HV) studies where the ictal discharges were induced either alone or accompanied by clinical absence seizures. All six patients had ictal discharges in their EEGs during HV and two of them also had clinical absences. SPECT findings during HV revealed an overall increase in the cerebral blood flow (CBF) with significantly higher values as compared to the baseline data. There was no indication for any focal origin in either the interictal or the ictal SPECT findings. Results of the study were supportive for the concept of subcortical origin for the absence seizures and they were also promising for the diagnostic value of ictal SPECT in epileptic cases with undetermined origin as to whether they were localization-related or generalized.

A study on visual evoked responses in childhood epilepsy with occipital paroxysms.

As some apparently idiopatic epilepsies may occasionally pose diagnostic difficulties in regard to their precise status of etiology, evoked potentials, particularly visual evoked potential (VEP), may contribute to the diagnosis of childhood epilepsy with occipital paroxysms (CEOP) as a subsidiary method of evaluation. This study includes 19 children (10 boys 52.6%; 9 girls 47.4%) ranging in age from 5 to 17 years (mean SD = 9.68 3.28) suffering from CEOP and a control group of 30 normal children, matched for chronological age and sex. Peak amplitudes and latencies of the P100 component for pattern-shift VEP (PVEP) and of major positivity for flash VEP (FVEP) are measured, respectively. The results from this study demonstrate that amplitude and latency values in patients with CEOP differs insignificantly when compared with controls. Although, non-significantly, mean values of amplitudes for both PVEP and FVEP were higher in the patients than in the normal children, whereas latencies in FVEP were somewhat longer. There may be some tendency for the amplitudes to increase and the latencies to be delayed in VEPs in patients with CEOP, when an overall interpretation of our and similar studies are considered. In certain cases of diagnostic difficulty, VEP values may provide further information for the clinician, regarding either a symptomatic or an idiopathic nature of the underlying disorder.

An attempt to predict daily erythrocyte lithium fluctuations.

Erythrocyte lithium concentration, which is a better predictor of brain lithium levels than plasma lithium concentrations, possesses the disadvantage of precise hourly determination following the last intake. The variability in RBC lithium accumulation increases as the extracellular lithium concentration increases. This increase is also time dependent and it would be very useful if the pharmacokinetic rate constant were known. Unfortunately, low lithium levels do not allow measurements within confidence intervals. In this work, we tried to determine, in vitro, the kinetic rate constants in erythrocytes of healthy volunteers. Different high lithium loaded plasma-like media were used for an extrapolation procedure of constants allowing the determination of an erythrocyte load constant namely K0 = 0.0161 +/- 0.0005 h-1 at corresponding plasma lithium concentrations. The abnormalities of lithium transport determined by in vitro procedures would be very useful in understanding the etiology of affective illness. Lithium flux pre-controls corrected with this rate constant would be very helpful in enlarging laboratory time management.

The effect of a single treatment with cigarette smoke on the blood levels and hemodynamic effects of propranolol in rats.

The effect of a single treatment with cigarette smoke on the blood levels and hemodynamic effects of propranolol in rats was studied. Pentobarbital sleep time was not affected whereas zoxazolamine paralysis time was shortened 72% in rats, 24 h after the cigarette smoke exposure. The beta-adrenoceptor blocking effect of propranolol observed at 10 and 20 min time intervals was abolished in rats exposed to cigarette smoke 24 h after the exposure. The blood propranolol concentrations were decreased in rats pretreated with phenobarbital, 3,4-benzpyrene and ethanol as well as in cigarette smoke exposed rats. Among several factors that could influence propranolol metabolism, in this study, enzyme induction is suggested to be dominant.

Salvage surgery of the limb with severe pseudoamniotic band syndrome: case report and literature review.

Pseudoamniotic band syndrome is a rare iatrogenic complication of twin-to-twin transfusion syndrome treated with foetoscopic procedures. We report a severe pseudoamniotic band syndrome in the recipient monochorionic diamniotic twin pregnancy with twin-to-twin transfusion syndrome following a selective foeticide procedure. A male newborn with a severe circumferential amniotic band in the left leg was treated by single-stage excision of the ring and arterio-venous decompression. No complications were encountered. A microsurgical approach to improve the circulation together with ring excision may be useful in some cases.

Atypical MRI findings in Canavan disease: a patient with a mild course.

Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas, with bilateral involvement of the globus pallidus. Proton magnetic resonance spectroscopy of the brain shows an increase in the concentration of N-acetylaspartic acid (NAA). The altered NAA metabolism has been traced to mutations in the gene encoding ASPA, located on chromosome 17 (17p13-ter). We present here a patient with a mild form of Canavan disease confirmed with the absent ASPA activity, atypical MRI findings, related to compound heterozygosity for a missense mutation, p.Tyr288Cys, and the known pan-European mutation, the p.Ala305Glu.

[Neurofibromatosis 2 (bilateral acoustic neurofibromatosis)]. / Neurofibromatose 2 (bilaterale akustische Neurofibromatose).

We report a personal series of 28 patients with neurofibromatosis 2 (NF-2), emphasizing the differences from classical NF-1. The hallmark of NF-2 is bilateral acoustic neuromas with initial symptoms usually occurring in the second or third decade. The natural history may lead to bilateral deafness, but hearing loss may also be a complication of surgery. NF-2 is frequently accompanied by additional intracranial tumors (particularly multiple meningiomas). Half of our patients had a spinal space-occupying lesion. NF-2 is inherited as an autosomal dominant trait, and many patients appear to represent new mutations.

Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?

We report a 3-year-old girl with fetal hydantoin syndrome (FHS) whose mother had received phenytoin 600 mg/day throughout gestation. She had growth retardation, mental deficiency, craniofacial dysmorphism and iris colomobata specific to FHS. However, the patient did not have the distal phalangeal hypoplasia which is associated with FHS; instead, she had polydactyly of the right foot. This seems to be the first FHS case in the literature with polydactyly.

MRI findings in pediatric neuro-Behçet's disease.

Behçet's disease (BD), a systemic vasculitis of unknown cause, affects many organs and systems. Neurological involvement is seen in 5-15% of the patients, and the two major forms of neurological disease seen in BD are central nervous system (CNS) parenchymal involvement and cerebral venous sinus thrombosis. We report a 14-year-old boy with BD who had neuro-parenchymal involvement. The diagnosis of the systemic disease was not made until the onset of the neurological manifestations, which led to an MRI study that revealed findings suggestive of CNS involvement of BD. We therefore emphasize the importance of the localization and appearance of other characteristics of the lesions on MRI in the differential diagnosis of parenchymal neuro-Behçet syndrome.