The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization

OBJECTIVE: To determine the genotype of a triplet resulted from an IVF procedure, with discordant cystic fibrosis (CF) phenotype. DESIGN: Molecular diagnosis of CF. SETTING: Affected triplet followed at the CF Clinic Center of Children's Hospital Los Angeles was referred to Molecular Genetics Laboratory at Georgetown University Medical Center for comprehensive DNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene. PATIENT(S): Three affected children and the healthy parents with negative family history of CF. MAIN OUTCOME MEASURE(S): Temporal temperature gradient gel electrophoresis and direct DNA sequencing were used to detect and to identify the mutations. RESULT(S): The child with classic CF had DeltaF508 and R553X mutations. Two children with mild CF symptoms had DeltaF508 and R117C. The father carried two mutations, R553X and R117C. The mother is a carrier for DeltaF508. CONCLUSION(S): Mutational analysis of the CFTR gene should always be recommended to the infertile couples seeking for IVF. The CFTR mutation screening would be essential if the man has congenital bilateral absence of vas deferens (CBAVD) despite the negative family history of CF. Option of complete CFTR gene analysis at a cost of about 1,500-2,000 dollars should be made available if one mutation is found in the male partner with congenital bilateral absence of vas deferens.     

Allergic granulomatosis and angiitis in the absence of asthma and blood eosinophilia: a rare presentation of limited Churg-Strauss syndrome

Allergic granulomatosis and angiitis, also known as Churg-Strauss syndrome (CSS), is an uncommon vasculitis of unknown etiology. We report a 21-year-old male patient with fatigue, dry cough, and progressive dyspnea. He had no history of asthma or eosinophilia. Thorax computed tomography showed bullous/cystic areas with thin walls in varying sizes (5–15 mm). Histopathological examination of the open lung biopsy revealed granulomatous infiltration with histiocytes and eosinophilic leukocytes. This extremely rare variant of CSS is discussed.     

Multiseptate gallbladder with acute acalculous cholecystitis

Multiseptate gallbladder is a rare congenital malformation of the gallbladder. In some cases, right upper quadrant pain, recurrent abdominal pain, and gallstones were present. We present the sonographic findings in a case of multiseptate gallbladder with acute cholecystitis, which (to our knowledge) has not been reported before. We hypothesize that bile sludge accumulated and subsequent cholecystitis developed as a result of bile stasis in our case because the classic predisposing factors that have been described were absent.     

The clinical and surgical aspects of spinal tumors in children

A series of 20 pediatric patients underwent surgery for spinal tumor at the Department of Neurosurgery, Gulhane Military Medical Academy between 1995 and 2003. Motor weakness and reflex changes were the main initial signs in these patients. Epidural tumors and intradural-extramedullary tumors were in equal number, and total tumor removal was achieved in most of the patients without adjuvant treatment. Laminotomy was the main surgical method in 60% of the patients with spinal tumor, especially in children younger than 3 years of age.     

Importance of anatomical asymmetries of transverse sinuses: an MR venographic study

Time-of-flight (TOF) magnetic resonance venography (MRV) is often used to examine the intracranial dural sinuses, particularly in the evaluation of dural sinus thrombosis. The goal of the study was to evaluate the use of TOF MRV in assessing the normal anatomy of dural sinuses and their variations as sources of potential pitfalls in the diagnosis of venous sinus thrombosis. Cerebral TOF MRV obtained in 105 persons with normal MR studies were reviewed to determine the presence, aplasia and hypoplasia of the transverse sinuses. Twenty-one (20%) aplasias of the left sinus, 41 (39%) hypoplasia of the left sinus, 33 (31%) symmetric, 6 (6%) hypoplasia of the right sinus, and 4 (4%) aplasias of the right sinus cases were determined in the asymmetry in sizes of transverse sinuses. These results suggested that transverse sinus flow gaps or aplasias can be observed in approximately 24% of normal population on MR imaging. The rate of these gaps in normal subjects must be kept in mind because it can be a source of misdiagnosis in cases of suspected dural sinus thrombosis.     

Utility of P300 auditory event related potential latency in detecting cognitive dysfunction in growth hormone (GH) deficient patients with Sheehan's syndrome and effects of GH replacement therapy

OBJECTIVE: Impaired cognitive function has been demonstrated in adults with growth hormone (GH) deficiency (GHD) by using different neuropsychological tests. Despite several studies, present knowledge about the impact of GHD and GH replacement therapy (GHRT) on cognitive function is limited. P300 event-related potential (ERP) application is a well-established neurophysiological approach in the assessment of cognitive functions including the updating of working memory content and the speed of stimulus evaluation. GHD is a well-known feature of Sheehan's syndrome and cognitive changes due to GHD and the effects of GHRT remain to be clarified. The present study was designed to investigate the effects of GHD and 6 months of GHRT on cognitive function in patients with Sheehan's syndrome by using P300 latency. DESIGN AND METHODS: The study comprised 14 patients with Sheehan's syndrome (mean age, 49.5+/-7.8 years) and 10 age-, education- and sex-matched healthy controls. With hormone replacement therapy, basal hormone levels other than GH were stable before enrollment and throughout the GHRT. The diagnosis of GH deficiency was established by insulin-tolerance test (ITT), and mean peak level of GH in response to insulin hypoglycemia was 0.77+/-0.35 mIU/l. Treatment with GH was started at a dose of 0.45 IU (0.15 mg)/day in month 1, was increased to 0.9 IU (0.30 mg)/day in month 2 and was maintained at 2 IU (0.66 mg)/day. Initially baseline auditory ERPs in patients and controls were recorded at frontal (Fz), central (Cz), and parietal (P3 and P4) electrode sites. In the patient group, ERPs were re-evaluated after 6 months of GH replacement therapy. During each session P300 amplitude and latency were measured. RESULTS: Mean serum insulin-like growth factor-I (IGF-I) concentration in the patient group before GHRT was 23+/-13 ng/ml. After 6 months of GH therapy mean IGF-I significantly increased to an acceptable level, 234+/-71 ng/ml (P<0.05). The mean latencies (at all electrode sites) of the patients before GHRT were found to be significantly prolonged when compared with those of normal controls (P<0.05). After 6 months of GHRT mean P300 latencies (at all electrode sites) were decreased significantly when compared with latencies before treatment (P<0.05). CONCLUSIONS: The present study, using P300 ERP latencies, therefore suggests an impairment of cognitive abilities due to severe GHD in patients with Sheehan's syndrome and an improvement of cognitive function after 6 months of physiological GHRT. Moreover, this was a novel application of P300 ERP latencies in cognitive function detection in patients with GHD. Further studies with different patient groups need to be done to assess the clinical use of this electrophysiological method in the diagnosis of cognitive dysfunction due to GHD.     

A contemporary overview of peripheral nerve research from the Cleveland Clinic microsurgery laboratory

Despite our better understanding of the pathophysiology of peripheral nervous system and advancements in microsurgical repair techniques, peripheral nerve injuries are still considered as a reconstructive challenge for all surgeons. For achieving a better nerve regeneration and better end organ reinnervation, advanced microsurgical manipulations are parallel with molecular biological discoveries. The field of peripheral nerve research is still developing and includes more sophisticated approach at the basic science level. In our Microsurgery Research Laboratory we have been working on different nerve repair techniques, including sleeve neurorrhaphy, sleeve grafts, single and polyfascicular nerve grafting techniques and studies on nerves in diabetic rats, in addition to the roles of different growth factors and pharmacological agents on peripheral nerve regeneration. New approaches for filling nerve gaps with nerve allografts and tolerance inducing strategies with their effect on nerve regeneration are included into our research armamentarium. In this overview we will summarize our 15-year experience in peripheral nerve research.     

Primary renal lymphoma of mucosa-associated lymphoid tissue

Mucosa-associated lymphoid tissue-type lymphomas have recently been recognized as a distinctive form of B-cell malignant lymphoma. In contrast to other types of low-grade lymphomas, these tumors have a tendency to be localized at diagnosis and to be curable with local therapy. We report an unusual case of primary localized low-grade lymphoma of mucosa-associated lymphoid tissue arising in the kidney. The patient underwent radical nephrectomy and was free of disease at 28 months of follow-up without additional treatment. Once properly staged and classified, lymphoma of mucosa-associated lymphoid tissue involving the kidney can be managed by radical nephrectomy and follow-up.