Molecular genetic studies in alpha-thalassemia]

A group of 5,000 patients, suspected of haemolytic anaemia, were investigated with molecular genetic methods for deletion types of alpha-thalassemia. In 776 (15.6%) patients a deletion of one or more alpha-globin genes was found. The same group of patients was also investigated for abnormal haemoglobins and beta-thalassaemia. In about 30% of the patients either an alpha-thalassaemia, an abnormal haemoglobin, a beta-thalassaemia, or a combination was diagnosed. In a group of patients with a haemoglobinopathy, the frequency of alpha-thalassaemia was much higher (i.e. 33%) than in individuals without haemoglobinopathy. Preselection of the patients based on the presence of microcytic erythrocytes and/or a decreased ADW0.5 of the erythrocytes gave a high incidence of false-negative and false-positive results. Therefore, haemoglobin examination should not be restricted to protein chemistry, but should include molecular genetic investigations for deletion types of alpha-thalassaemia.     

Congenital cervical atresia: Report of seven cases and review of the literature

OBJECTIVE: Our aim was to evaluate the clinical course and management of congenital cervical atresia. STUDY DESIGN: This retrospective analysis included 7 patients referred to our clinic and a review of the medical literature. RESULTS: Including this case series, 58 cases of congenital cervical atresia have been reported in the literature. Forty-eight percent of patients had isolated congenital cervical atresia with a normal vagina whereas the remainder had either complete or partial vaginal atresia (“shortened blind vaginal pouches”). Surgical management has included abdominal hysterectomy or uterovaginal cannulation with or without vaginoplasty. In 59% of patients who underwent uterovaginal canalization procedures (23/39), normal menstrual bleeding was achieved. Four of these patients subsequently became pregnant and were delivered at term. CONCLUSION: Surgical canalization in selected patients with congenital cervical atresia can be successfully performed to provide patients an opportunity for conservative management, resulting in normal menstrual bleeding, resolution of cyclic pelvic pain, and some potential (albeit limited) for fertility.(Am J Obstet Gynecol 1997;177:25)     

Serum markers of bone formation in parenteral nutrition patients

Summary Bone gamma-carboxyglutamic acid containing protein (BGP) has been utilized effectively as a serum marker of bone turnover in healthy normals and in individuals with a variety of metabolic bone disorders including postmenopausal osteoporosis and Paget's disease. The utility of this serum marker in other bone disorders, including that associated with the maintenance of patients on long-term parenteral nutrition, still requires definition. Because of our interest in this clinical syndrome and the availability of serum and of bone formation rates (BFR) measured directly from double tetracycline labeling in 11 long-term parenteral nutrition patients, we measured BGP levels in these patients and attempted to correlate this measure with BFR. Serum vitamin D metabolites, immunoreactive parathyroid hormone (PTH), and alkaline phosphatase (alk phos) were also measured. Serum BGP was only weakly and not significantly correlated (r=0.24, p=NS) with bone formation rate for the group as a whole. However, in a subgroup of 10 patients without hyperparathyroidism, there was strong and significant correlation (r=0.81,P<0.01) between BGP and BFR. There was also a strong correlation between bone formation rate and serum 1,25 dihydroxyvitamin D [1,25(OH)2D] levels (r=0.89,P<0.01, n=11). The mechanism of this association could not be established. A correlation of borderline significance was observed between bone formation rate and serum alk phos (r=0.60,P=0.05, n=11). The current data suggest that additional studies may help to more fully define the utility of serum measurements in quantifying bone dynamics in parenteral nutrition patients, and that measures of vitamin D metabolites, BGP, and alk phos may prove useful.     

Fluoxetine in panic disorder

Twenty-five patients with a primary DSM-III-R diagnosis of panic disorder with or without agoraphobia were treated openly with the serotonin uptake inhibitor fluoxetine for up to 12 months. For most patients, treatment was initiated at 5 mg/day to minimize adverse effects previously reported with initiation at higher doses. Nineteen (76%) experienced moderate to marked improvement in panic attacks. Four (16%) were unable to tolerate fluoxetine due to adverse effects. Initiating treatment of panic disorder with low doses of fluoxetine may increase its acceptability and permit more patients to benefit from fluoxetine.     

Observation unit management of pediatric emergencies

Observation units for children in an Emergency Department setting can serve to improve the quality of medical care provided as well as reduce overall costs; however, they must be properly organized with careful consideration for the needs of children. Policies must be written specifying who is in charge as well as who can be accepted into these units and for how long. Procedures regarding documentation and sign-out must be formulated. These units must be well staffed and fully equipped, and they should be pleasant places for the children to stay; otherwise, what might begin as assets can quickly become disorganized and potentially dangerous liabilities.     

18F]-Dopa positron emission tomography imaging in early-stage, non-parkin juvenile parkinsonism.

There are few reports of positron emission tomography (PET) in juvenile parkinsonism (JP). We report on the results of (18)F-6-fluoro-L-dopa (FD) PET in a 14-year-old patient with JP of 5 years duration associated with atypical features. This is the youngest subject to be investigated to date. There was a severe asymmetric reduction in striatal FD uptake, with a rostrocaudal gradient in the putamen similar to that seen in adult-onset idiopathic parkinsonism. Extensive DNA analysis in this patient did not show mutations in the parkin gene.     

Biliary and portal obstruction by celiac artery aneurysm

This report describes a unique case of biliary and portal obstruction by a massive celiac artery aneurysm. Severe portal hypertension with extensive retroperitoneal varices and a perforated gallbladder complicated the surgical management. A survey of the literature emphasized the novelty of this case.     

Chronic lithium treatment increases the phosphorylation of a 64-kDa protein in rat brains

Despite the wide clinical use of lithium in the treatment of manic depressive illness there is no adequate explanation for its mechanism of action. In the light of lithium's suggestive effects on the second messenger system in the brain, we studied the effects of chronic dietary lithium treatment (achieving blood levels in the therapeutic range) on protein phosphorylation in different areas of rat brain. An increase in the phosphorylation of a 64-kDa membrane-associated protein was evident in the lithium-treated rats compared to controls. This increase was observed only under basal phosphorylating conditions and was abolished when the phosphorylation was performed in the presence of Ca²⁺ or Ca²⁺ and calmodulin. The possibility that this 64-kDa protein affected by lithium is the beta-subunit of the calmodulin-dependent protein kinase or a different protein which co-migrates with it is discussed.