Hereditary spastic paraplegia: report of two siblings

A Japanese boy had marked generalized hypotonia and weakness and progressive respiratory failure since birth. Left biceps brachii muscle biopsy at 47 days of age showed marked variation in muscle fiber size, and nemaline and/or cytoplasmic bodies in approximately 10% of the muscle fibers. To our knowledge, the presence of nemaline and cytoplasmic bodies in the same muscle has not been previously reported. The severity of his respiratory failure and muscle weakness were thought to be related to muscle immaturity since there were many undifferentiated type 2C fibers.     

Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases

This study was designed to assess the effect of paraquat on the rat kidney. The experimental animals used were Wistar rats, a strain selected and maintained at the Institut d'hygiène alimentaire. Their diet was well defined and their state of health monitored. Female animals with mean weight of 200 g were used in this study. Doses of 20, 30 and 50 mg/kg were administered via the gastrointestinal route. In this experimentation, performed on 12 rats plus 3 controls, the dose considered to be sublethal was 30 mg/kg administered by gavage. These animals were sacrificed after 24 h, 48 h, 4, 8, 15, 30 and 60 day, selecting those animals with the most severely altered state, at each time. Tubular lesions started to appear by the 24th hour; the proximal tubule was the most sensitive. Lesions of the distal tubule were observed slightly later, from the 48th hour. Lesions became more intense from the 4th day onwards and reached a maximum on the 8th day. The first signs of repair of the proximal tubule and distal tubule were observed on the 15th day, but were less marked for the proximal tubule. This repair was slow and progressive. Persistent lesions of the proximal or distal tubules were still observed after two months. The glomeruli presented several alterations, which were always only moderate. Overall, paraquat induces serious life-threatening lesions of acute tubular necrosis in the absence of adequate intensive care.     

Immunoblastic lymphadenopathy. A report of two cases

Two patients who had immunoblastic lymphadenopathy with clinical symptoms of fever, anemia, hypergammaglobulinemia, and enlarged lymph nodes were treated with chemotherapy. The lymph node biopsy specimens were originally interpreted as malignant processes because of severe immunoblastic and plasmacytic infiltration that practically obliterated the architecture of the lymph nodes. One patient recovered and was free of symptoms five years after clinical onset of the disease. The second patient died of massive gastrointestinal bleeding six weeks after the onset of disease and five weeks after administration of cytotoxic drug therapy. The cases illustrate the ineffectiveness and possible adverse effect of chemotherapy, as well as the importance of differentiation of immunoblastic lymphadenopathy from frankly malignant lymph node diseases.     

Choroidal blastomycosis. A report of two cases

Isolated resting platelets are able to limit neutrophil activation and then can control the tissue-damaging potential of activated neutrophils. In the present study, platelet-neutrophil interactions have been evaluated in 10 uremic patients; the blood samples have been collected before the hemodialysis session. Twelve normal subjects served as controls. Platelets and neutrophils have been isolated and recombined in an autologous ex vivo system. Anion superoxide production and chemiluminescence (which is related to hypochlorous acid production) have been evaluated after stimulation with N-formyl-methionyl-leucyl-phenylalanine. Coincubation of platelets from normal subjects with autologous neutrophils led to a dose-dependent inhibition of both superoxide anion generation induced by N-formyl-methionyl-leucyl-phenylalanine and chemiluminescence. Instead, platelets from uremic patients have not affected superoxide anion production by autologous neutrophils. The chemiluminescence was reduced by coincubation with autologous platelets only at the highest platelet-neutrophil ratio (100:1). In conclusion, the modulation exerted by platelets towards neutrophil activation can be impaired in chronic uremia. Therefore, the tissue-damaging potential of circulating neutrophils, due to toxicity by superoxide anion and hypochlorous acid, may be increased.     

The thanatophoric dwarf. A report on two cases

Two cases of thanatophoric dwarfism are presented. At external physical examination this anomaly is not readily distinguishable from achondroplasia and other forms of congenital disproportionate dwarfism. Radiologically, however, characteristic skeletal changes are demonstrable. The diagnosis can be made in utero. The clinical course is invariably fatal. The hereditary aspects, of importance for genetic counseling of parents, are still unexplained. The patients discussed show the typical thanatophoric skeletal changes in combination with a form of synostosis, i.e. bilateral radioulnar synostosis in one case, and synostosis of the coronal sutures and the lambdoid suture in the other. Emphasis is placed on the importance of radiological examination in cases of unexplained hydramnion and perinatal death.     

Posthysterectomy fallopian tube herniation. A report of two cases

BACKGROUND: Tubal herniation as a complication of hysterectomy is a rare phenomenon, markedly more frequent after vaginal hysterectomy. With the increasing use of the vaginal route, the ratio between tubal herniation after vaginal versus abdominal hysterectomy may exceed 3:1. CASE: We report two cases of tubal herniation into the vagina, one after vaginal hysterectomy and the other after total abdominal hysterectomy, in two patients, aged 36 and 37 years. CONCLUSION: A tubal prolapse in the vagina may be considered a hernia and occurs only if a communication exists between the peritoneal cavity and vaginal canal. It can be an early or late prolapse. Symptoms consist almost exclusively of persistent blood loss and/or leukorrhea, dyspareunia and chronic pelvic pain. Whether the abdominal or vaginal approach should be used in surgical correction of prolapsed tubes must be decided in each case according to the patient's individual characteristics. Both histologic pictures described merit careful attention, distinguishing between the terminal tubal segment and the more cranial tract (above the vaginal strangulation).     

Hereditary persistence of alpha-fetoprotein. Case report and review of the literature

BACKGROUND: The issue of performing simultaneous pulmonary resection and cardiac surgery in patients with coexisting lung carcinoma and ischaemic heart disease remains controversial. We report our experience and review the literature. METHODS: Thirteen patients (male ten, female three; mean age 65 years) underwent simultaneous cardiac surgery and pulmonary resection. Lung pathology consisted of primary lung carcinoma (n = 10), benign disease (n = 2) and carcinoid (n = 1). Lung resections included pneumonectomy (n = 3), lobectomy (n = 4), segmentectomy (n = 1) and local excision (n = 5). Cardiac procedures consisted of coronary artery bypass grafting (CABG) in 11, aortic valve replacement in one and mitral valve repair with CABG in one patient. In all but one case the lung resection was performed prior to heparinization and cardiopulmonary bypass (CPB). In two patients, with suitable coronary anatomy, myocardial revascularization without CPB was performed to reduce morbidity. RESULTS: There was no hospital mortality. Postoperative blood loss and ventilation requirements were reduced in the patients who were operated on without CPB. Prolonged ventilatory support was required in two cases. All patients with benign pathology are alive. In the lung cancer group there have been five late deaths: disseminated metastatic disease (n = 3), anticoagulant related haemorrhage (n = 1) and broncho-pleural fistula (n = 1). Of the remaining five patients four are alive and disease free 7-23 months post-operatively; one patient has recurrent disease 40 months post-operatively. CONCLUSIONS: Simultaneous pulmonary resection and cardiac surgery is associated with acceptable operative morbidity and mortality. In patients with lung carcinoma long-term survival was determined by tumour stage. The avoidance of CPB may be advantageous by decreasing blood loss and ventilation requirements.     

Hereditary acute tyrosinemia. a case report (author's trnasl)

A three month old infant with hepatic cirrhosis of rapid instauration is presented. Diagnosis of acute tyrosinemia was suspected by clinical data and confirmed by the quantitiative determination of plasma amino acids and the peculiar histological characteristics of hepatic cirrhosis. Authors review briefly the pathogenesis, symptoms and treatment of the disease.     

Cytodiagnosis of placental site trophoblastic tumor. A report of two cases

Phorbol esters exert a dual function in human leukemia cells, induction of differentiation and activation of integrin-mediated functions. Here we have shown that the plastic adherence of phorbol ester-treated U937 cells is mediated by expression of integrin Mac-1 (CD11b/CD18) on the cell surface and that these adherent cells exhibit anoikis (apoptosis when adherent cells are detached or adherence is inhibited). We used U937-derived clones overexpressing either antisense RNAs antisense to CD11b and CD18 mRNAs or mRNA from a truncated mutant CD11b gene. We have also shown that apoptosis in non-adherent cells or anoikis was mediated by sphingosine and that survival of adherent cells was achieved by a shift of the dynamic balance between sphingosine and sphingosine 1-phosphate toward the latter by adherence-activated sphingosine 1-kinase.     

Recurrent dislocation of tibialis posterior tendon. A report of two cases

We successfully treated two patients with recurrent dislocation of the tibialis posterior tendon by creating a bone block. Sudden resistive contraction of the tibialis posterior muscle is considered to be the mechanical cause of the initial traumatic injury, and a shallow tibialis posterior tendon sulcus may be the predisposing factor. Once the flexor retinaculum is torn during the initial trauma, recurrent dislocation is inevitable, and surgical treatment is mandatory. When treating patients with a complaint of long-standing pain around the medial malleolus, we must bear in mind the possible diagnosis of recurrent dislocation of the tibialis posterior tendon. If the patient can voluntarily dislocate the tendon by active plantar flexion and inversion of the ankle, the diagnosis is definitive.     

Measuring treatment outcome and client satisfaction among children and families: A case report.

Formal assessment of client satisfaction and treatment outcome is more frequently being requested as a component of mental health services. This article outlines a treatment outcome and client satisfaction program implemented at the Children's Health Council, a private nonprofit mental health agency in Palo Alto, California, affiliated with the Stanford University Medical Center. The program was designed to be simple and inexpensive, and it is intended to serve as an example for other agencies and practicing professionals wishing to measure treatment outcome and client satisfaction. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Neuropsychological performance in Hallervorden-Spatz syndrome: A report of two cases.

Hallervorden-Spatz disease (HSD) is a rare progressive disorder characterized by iron deposition in the globus pallidus and zona reticularis of the substantia nigra. The cases of 2 Black female patients (aged 20–38 yrs) with diagnoses of probable HSD are evaluated, based on typical clinical course in conjunction with magnetic resonance imaging abnormalities restricted to the region of the globus pallidus. Ss' deficits included slowed cognitive processing speed, motor sequencing difficulty, constructional dyspraxia, and impaired recent memory functions. The constellation of behavioral deficits can be attributed to dysfunction of the frontal lobe, basal ganglia, or disruption of their functional interconnections. Additional deficits in language and visuospatial processing were also observed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Lateral cradling preferences in humans (Homo sapiens): Similarities within families.

Women (Homo sapiens) tend to cradle infants on the left side of the body. Results are reported of a survey of family photograph albums. We found that left-side cradling frequencies (LCFs) are higher in women than in men and that there are strong significant correlations between the LCFs of mothers and daughters, sisters, and maternal grandmothers and granddaughters. There may be a genetic influence on lateral cradling tendencies; women's left-side cradling preferences were found to be repeated with subsequent children. Heritability of women's LCF has an upper limit of 0.82, and the regression of daughters' mean LCF on mothers' LCF gives a heritability of 0.93?±?0.29. The data may be interpreted in two ways: There may be sex-limited genes (i.e., genes that express themselves only in women) for lateral cradling preferences, or women may learn cradling preferences from their mothers and other female relatives. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Hereditary pancreatitis: report of a family from Turkey

Lysinuric protein intolerance (LPI) is an autosomal recessive disorder in which transport of the cationic amino acids lysine, arginine and ornithine is defective at the basolateral membrane of the epithelial cells in the intestine and renal tubules. LPI is unusually common in Finland, but patients have been described on all continents. Linkage analysis in Finnish LPI families recently assigned the LPI gene locus to a 10 cM interval between markers D14S72 and MYH7 on the long arm of chromosome 14. In the present study linkage analysis of LPI families from six different non-Finnish populations strongly suggests genetic homogeneity in LPI. Peak lod scores were obtained at the chromosomal area between D14S72 and MYH7 with the same markers as in the Finnish families. The non-Finnish families showed no linkage disequilibrium except in an Italian family cluster, whereas strong allelic association in the Finnish families implies that LPI in Finland is caused by a founder mutation.