An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA

An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were observed along with proximal muscular weakness and wasting. Her serum creatine kinase level was high and histological evidence of muscular dystrophy was apparent on muscle biopsy. The patient was ambulant at age 15 and progression of motor disability has been slow. Chromosomal studies revealed a normal karyotype, and mental retardation is moderate. DNA analysis at age 26 revealed that she has a deletion of DMD cDNA 8 mapped within Xp21 and is heterozygous for the deletion. Since diagnosis of DMD is now dependent on the evidence of mutation or deletion at Xp21, this patient is thought to have a form of DMD. Expression of the DMD gene in the heterozygous state might be due to random but unequal lyonization.     

慢性扁桃体炎病儿细胞免疫功能的变化

1目的　探讨慢性扁桃体炎病儿细胞免疫功能的变化及临床意义。2方法　采用碱性磷酸酶抗碱性磷酸酶法及红细胞酵母菌花环法 ,检测了 40例慢性扁桃体炎病儿及 30例健康儿童红细胞 C3b受体花环率 (E- C3bRR )、红细胞免疫复合物花环率 (E- ICR)、T淋巴细胞亚群和可溶性白细胞介素 2受体 (s IL - 2 R)的变化。3结果慢性扁桃体炎病儿外周血 T淋巴细胞亚群 CD4阳性细胞及 CD4/ CD8比值较对照组降低 (t=2 .10 ,3.70 ,P <0 .0 1,0 .0 5 ) ,CD8阳性细胞较对照组升高 (t=6 .83,P<0 .0 1) ;E- C3b RR,E- ICR较对照组降低 (t=10 .47,3.35 ,P<0 .0 1) ;血清中 s IL- 2 R水平较对照组升高 (t=9.11,P<0 .0 1) ;CD4/ CD8比值与 s IL- 2 R水平呈显著负相关 (r=- 0 .8436 ,P<0 .0 1)。4结论　慢性扁桃体炎病儿细胞免疫功能低下且紊乱。     

Constricting band penile injury with urethral transection

Constricting band penile injuries in children may be caused by inadvertent entrapment by a variety of agents including hair, thread, and circumcision dressings. Alternatively, the offending band may have been self-applied or applied by an attendant. Unrelieved, the band causes serious vascular occlusion, progressive tissue necrosis, and injury to the urethra and erectile tissue. We report a case of CBPI in a 12-year-old circumcised boy. The glans was attached to the penile shaft by a tenuous segment of tissue dorsally with complete transection of the urethra. A three-stage reconstruction using a delayed groin flap was successful.     

Reoperation Due to Complications after Gastric Restriction Operation

Background: In the past 4 years we performed operations on 90 patients who suffered from morbid obesity. Five different operative techniques were available, vertical banded gastroplasty (VBG), silastic ring vertical gastroplasty (SRVG), gastric banding operation, adjustable silicone gastric banding (ASGB) and biliopancreatic diversion (BPD). Methods: Two of these operations were mainly utilized. The ASGB was done routinely. The SRVG was used particularly for patients with hiatal hernia. Only one patient, who had a deformed pylorus, underwent the BPD. Results: Eleven patients had to be reoperated due to complications after the first operation of gastric restriction. They were divided into three groups depending on the type of complication: reoperation due to lack of compliance, due to technical failure, or due to other complications. In the last group we observed three patients with band perforation into the stomach without epigastric pain. This complication has, to our knowledge, only been described in very few cases. Conclusion: In some patients it remained difficult to reach adequate compliance, although we kept close contact with them after the operation. We do not yet know the reasons for the band perforation observed in three patients.     

Transient decrease in sound tolerance levels following hearing deprivation in normal-hearing subjects

ObjectiveTo determine the circadian influence on sound sensitivity produced by temporal hearing deprivation in healthy normal human subjects.DesignParticipants underwent bilateral earplugging before completion of anthropometry, the author's developed questionnaire, the Hamilton Anxiety and Depression Inventory, pure tone audiometry (PTA), stapedial reflex thresholds (SRT), distortion products otoacoustic emissions input/output (DPOAE-I/O), and uncomfortable loudness levels (ULLs). Afterward, the participants were randomly divided into group A, starting at 8:00 a.m. and finishing at 8:00 p.m., and group B, starting at 4:00 p.m. and ending at 4:00 a.m. Serum cortisol levels and audiological test results were obtained at the beginning and end of the session and 24-h free urinary cortisol levels were measured.Study sampleThirty healthy volunteers.ResultsPTA was 2.68 and 3.33 dB HL in groups A and B, respectively, with no statistical difference between them. ULLs were significantly lower in group A compared to group B, with an average of 8.1 dB SPL in group A and 3.3 dB SPL in group B (p < 0.0001). A SRT shift was observed in group A, with no difference in group B, and a night shift in DPOAE-I/O in group B.ConclusionsReduced loudness tolerance is demonstrated during daytime hearing deprivation in contrast to nighttime; this may be due to increased central gain in the awake cortex.     

Human erythrocyte band 3 (EPB3) polymorphism: Analysis of blood and bloodstains by an immunodetection method and frequency of the EPB3* Memphis variant

Summary The erythrocyte band 3 (EPB3) variant, band 3 Memphis (EPB3*Memphis), was detected by immunoblotting with a monoclonal antibody to the 41 kDa cytoplasmic N-terminal domain of band 3 without protease treatment of erythrocytes. EPB3*Memphis was also detected by immunoblotting from 3-month-old bloodstains subjected to -chymotrypsin treatment. A population genetic study using this method indicated that the EPB3 variant would be useful for forensic work in Japan, since the frequency of this variant in Japanese (Wakayama prefecture) is relatively high (0.159).     

Experimental approach to the pathogenesis of the anomalies of amniotic disease

By intra-adnexal injection of glucose in the rabbit embryo, we were able to stimulate all the anomalies associated with "Amniotic Disease". Since we were even able to obtain amniotic bands, this study provides an excellent experimental model of this disease. Resulting lesions occur early in development, corresponding to the first trimester of human gestation. All of the anomalies can ultimately be explained by the destruction of the most superficial cells: epiblastic cells of the embryo and the amnion, subjacent mesenchyme, and endothelial cells. The subsequent lack of interaction between these cells and the importance of the anatomical localizations of resulting hematomas can lead to the pathogenetic approach to this disease. In light of the present study, the disease appears to be caused by an external factor within the amniotic fluid. The exact nature of the destructive agent(s) remains a mystery in man.     

Plastic and Reconstructive Body Contouring in the Post-vertical Banded Gastroplasty Patient: a retrospective review

Class IV obesity (body mass index > 40) is associated with an increased risk of a variety of health problems, many of them potentially life-threatening or life-shortening. Vertical banded gastroplasty (VBG) is currently the most frequently performed surgical procedure used to restrict food intake and assist with weight loss. After massive weight loss, however, redundant abdominal and breast tissue can result in physiological and psychological problems related to an unusual body habitus. Patients complain of difficulties with daily activities, choice of clothing, social acceptance, etc. Body contouring has proven to be an important part of the rehabilitation of the morbidly obese patient, and we have therefore reviewed the records of 55 patients who experienced massive weight loss following VBG and then underwent abdominoplasty with or without mammoplasty/mastopexy, in order to assess the parameters which will be seen more frequently in the future by plastic surgeons as bariatric surgery becomes more widely accepted and performed.     

Prefrontal cortical projections to the cholinergic neurons in the basal forebrain

The prefrontal cortex (PFC) projections to the basal forebrain cholinergic cell groups in the medial septum (MS), vertical and horizontal limbs of the diagonal band of Broca (VDB and HDB), and the magnocellular basal nucleus (MBN) in the rat were investigated by anterograde transport of Phaseolus vulgaris leuco-agglutinin (PHA-L) combined with acetylcholinesterase (AChE) histochemistry or choline acetyltransferase (ChAT) immunocytochemistry. The experiments revealed rich PHA-L-labeled projections to discrete parts of the basal forebrain cholinergic system (BFChS) essentially originating from all prefrontal areas investigated. The PFC afferents to the BFChS display a topographic organization, such that medial prefrontal areas project to the MS, VDB, and the medial part of the HDB, whereas the orbital and agranular insular areas predominantly innervate the HDB and MBN, respectively. Since the recurrent BFChS projection to the prefrontal cortex is arranged according to a similar topography, the relationship between the BFChS and the prefrontal cortex is characterized by reciprocal connections. Furthermore, tracer injections in the PFC resulted in anterograde labeling of numerous "en passant" and terminal boutons apposing perikarya and proximal dendrites of neurons in the basal forebrain, which were stained for the cholinergic marker enzymes. These results indicate that prefrontal cortical afferents make direct synaptic contacts upon the cholinergic neurons in the basal forebrain, although further analysis at the electron microscopic level will be needed to provide conclusive evidence.     

Left Ventricular Anomalous Muscle Band and Electrocardiographic Repolarization Changes

A child with considerable electrocardiographic (ECG) repolarization abnormalities is reported in whom, after clinical and hemodynamic evaluation, only a large muscular false tendon within the left ventricular cavity was found. The genesis of the ECG changes in such cases is discussed, and the differential diagnosis from apical hypertrophic cardiomyopathy is analyzed.