A case of true hermaphroditism

In the paper we present the case of true hermaphroditism in young girl. The examinations revealed the presence of an ovary with left corn of the uterus at the left side and immature testis with seminal duct the right side.     

A case of true hermaphroditism with 45X/46XY mosaicism

The authors describe a case of true hermaphroditism of mainly female phenotype, ambiguous genitalia, and ovotestis. The cytogenetic revealed 45X/46XY mosaicism and an absence of Barr bodies.     

Ultrastructure of an ovotestis in a case of true hermaphroditism

A case of true hermaphroditism with bilateral ovotestes is reported. The karyotype was 46, XX. At laparotomy done at the age of 21 months a uterus, bilateral fallopian tubes, and bilateral gonads were observed. On frozen section examination, each gonad was shown to be an ovotestis. By light and electron microscopy, the only cellular abnormality observed in the ovotestes was the absence of primitive germ cells in the seminiferous tubules. The ovarian portion showed primordial follicles and normal follicular development.     

Movement analysis in infancy may be useful for early diagnosis of autism

All of the 17 autistic children studied in the present paper showed disturbances of movement that with our methods could be detected clearly at the age of 4-6 months, and sometimes even at birth. We used the Eshkol-Wachman Movement Analysis System in combination with still-frame videodisc analysis to study videos obtained from parents of children who had been diagnosed as autistic by conventional methods, usually around 3 years old. The videos showed their behaviors when they were infants, long before they had been diagnosed as autistic. The movement disorders varied from child to child. Disturbances were revealed in the shape of the mouth and in some or all of the milestones of development, including, lying, righting, sitting, crawling, and walking. Our findings support the view that movement disturbances play an intrinsic part in the phenomenon of autism, that they are present at birth, and that they can be used to diagnose the presence of autism in the first few months of life. They indicate the need for the development of methods of therapy to be applied from the first few months of life in autism.     

Extended induction of ovulation by human menopausal gonadotropins and a gonadotropin-releasing hormone analog in high responders for in vitro fertilization and oocyte donation

OBJECTIVE: To examine the efficacy of extending ovulation induction for the in vivo maturation of oocytes. STUDY DESIGN: Fifty-nine high responders underwent 72 in vitro fertilization (IVF) cycles with a conventional protocol of human menopausal gonadotropin and a gonadotropin-releasing hormone analog. These patients donated oocytes to 81 recipients. The same 59 patients underwent 90 subsequent cycles in which the duration of induction was extended by two to three days. The oocytes were also donated to 138 patients. RESULTS: With the extended protocol, significantly more oocytes were retrieved (29.1 vs. 20.6), and a greater proportion of them were mature. Fertilization rates were significantly higher for both donors (67.7% vs. 36.2%) and recipients (67.5% vs. 47.1%). Conception rates were also significantly higher for both donors (24.4% vs. 11.1%) and recipients (38.4% vs. 24.7%). CONCLUSION: Extending the duration of ovulation induction in high responders is associated with in vivo maturation of oocytes and improved success rates in IVF and ovum-donation programs.     

A new reliable laboratory test of endurance performance for road cyclists

PURPOSE: The purpose of this study was to devise and evaluate a laboratory test of cycling performance that simulates the variable power demands of competitive road racing. The test is a 100-km time trial interspersed with four 1-km and four 4-km sprints. METHODS: On three occasions separated by 5-7 d, eight endurance-trained cyclists (peak oxygen uptake 5.0 +/- 0.7 L.min-1, peak power output 411 +/- 43 W, mean +/- SD) performed the test on their own bikes mounted on an air-braked Kingcycle ergometer. Subjects were free to regulate their power output but were asked to complete each sprint and the full distance as quickly as possible. The only feedback given to the cyclists during each test was elapsed distance. RESULTS: In the first test, time for the 100 km and mean times for the 1-km and 4-km sprints were 151:42 +/- 10:36, 1:16 +/- 0:06, and 5:31 +/- 0:16 min:s, respectively; these times improved by 1.6-2.2% in the second test, but there was little further improvement in the third test (0.7 to -0.5%). The between-test correlation for 100-km time was 0.93 (95% CI 0.79 to 0.98), and the within-cyclist coefficient of variation was 1.7% (95% CI 1.1 to 2.5%). Mean sprint performance showed similar good reliability (within-subject variation and correlations for the 1-km and 4-km sprint times of 1.9%, 2.0%, 0.93, and 0.81, respectively). CONCLUSIONS: The high reliability of this laboratory test will make the test useful for research on performance of competitive road cyclists.     

Comparative randomized controlled study between human follicle- stimulating hormone (FSH-HP) and human menopausal gonadotropins (hMG) in in vitro fertilization

Orotracheal fibreoptic intubation under general anaesthesia in children was studied in eleven consecutive patients of three months to eight-years-of-age without anticipated intubation difficulties. One case report is also included. Three fibrescopes with a different diameter were used in the study. The fibrescope used was chosen so that it fitted snugly in the tracheal tube. The fibreoscopy was prolonged in one patient due to mucus and two tries were needed. Resistance to the tracheal tube upon intubation was encountered in five patients, only one of these patients was older than two years. Fibreoptic intubation succeeded in nine patients. Two patients were intubated with the Macintosh laryngoscope. The problems encountered in children during orotracheal fibreoptic intubation under general anaesthesia are the same as with adults: easy fibreoscopy is not always followed by easy tracheal intubation, there may be prolonged fibreoscopy and failed intubations. Manipulation of the tracheal tube can lead to successful tracheal intubation and resistance to the tube is more common in smaller children.     

Testicular juvenile granulosa cell tumor in an infant with X/XY mosaicism clinically diagnosed as true hermaphroditism

We report a testicular juvenile granulosa cell tumor (T-JGCT) with characteristic clinical and histopathological features. The tumor was present in the left abdominal testis of a 7-month-old infant with a 45,X/46,XY karyotype and ambiguous genitalia. Preoperatively, the infant was diagnosed as having functional testicular and ovarian elements based on elevated levels of serum testosterone and estradiol following human chorionic gonadotropin and human menopausal gonadotropin administration, respectively. Histologically, the left gonad contained a tumorous lesion composed of an admixture of cellular areas and multiple cystic follicles that had some continuity with the adjacent testicular tubules. Some tumor cells showed immunoreactivity for estradiol. The right gonad was a streak gonad containing small irregular nests of sex cord-type cells. No maturing ovarian follicle was present in either gonad. To our knowledge, this is the fifth reported case of T-JGCT with abnormal sex chromosomes, and the first case of T-JGCT confirmed to have not only the morphological but also the functional characteristics of granulosa cells.     

A case of true human tail accompanied with spinal lipoma

Human tails have been attributed to a disturbance in fetal tail regression which normally occurs at the gestation age of about 6 weeks. To date, more than 100 cases of human tails have been reported. However, reports of true human tails, which involve the coccygeal vertebrae, are rare. We recently encountered a patient with a true human tail which involved the coccygeal vertebrae and was accompanied by lumbar spinal lipoma and spina bifida. A four-year-old boy was brought to our clinic with complaints primarily of painful mass. The boy had no neurological abnormalities. Physically, a tail bone projected, slightly in the lumbar area, with a linear depression in the center. A hard tail bone was palpable subcutaneously. A soft mass was palpable in the lumbar region, which was accompanied by hemangioma on the superficial layer of the skin in this region. On X-ray films, the tail bone lacked the normal curvature and it projected linearly in the posterior direction. CT scans revealed spina bifida at the level below L2. MRI disclosed spina bifida (at the level below L2), spinal lipoma and a tethered cord. During surgery, the tail bone was first resected over a distance of one and a half vertebral bodies. The lumbar tumor, which continued into the spinal canal, was removed as completely as possible after incision of the dura mater. To free the tethered cord, the tensioned, hypertrophic filum terminale was dissected. Although the morphological diagnosis of this condition is easy, the high incidence of complication by other anomalies makes it essential to perform thorough preoperative examinations with CT and MRI.(ABSTRACT TRUNCATED AT 250 WORDS)     

Macroscopic agglutination test for rapid diagnosis of human leptospirosis

A commercially available slide agglutination test (SAT) for the diagnosis of human leptospirosis was evaluated by comparing it to an immunoglobulin M (IgM) enzyme-linked immunosorbent assay (ELISA) and to the microscopic agglutination test (MAT). For all 108 patients, leptospirosis was diagnosed on the basis of a fourfold or greater increase in titer by MAT (seroconversion), and all but 1 of 245 controls were MAT negative (titers, <1:100). Both SAT and the IgM ELISA failed to detect one case of infection (sensitivity, 99%). Only 3 of 145 blood donors and none of the 100 patients with other illnesses were SAT positive (specificity, 99%). The overall results were similar for the three tests; however, SAT and ELISA were statistically more sensitive as initial screening tests. For 22% of the patients, the diagnosis of leptospirosis was made earlier by SAT than by MAT. SAT detected 27 (44%) of 62 MAT-negative patients with the first serum sample. ELISA and SAT had very similar results. Follow-up of patients for 1 year after the onset of symptoms showed a decreasing rate of positivity by SAT from the third month on. The rate of positivity by ELISA decreased more slowly, to about 67% by the end of the study. By MAT all patients were persistently reactive. SAT and ELISA seem to be convenient methods for the rapid and early screening for leptospirosis and could replace the less sensitive MAT. ELISA gives less subjective results than SAT and provides information on IgM kinetics, but it can be performed only by the more sophisticated laboratories. SAT is inexpensive, can be performed more quickly and more easily than ELISA, and could be used by the less well equipped laboratories.     

Hyperthyroidism in early infancy: pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism

We report here two rare cystic lesions, a lymphoepithelial cyst (LEC) and an epidermoid cyst of the accessory spleen (ECAS) occurring in the pancreas. Histologically, the LEC was lined by stratified squamous epithelium and surrounded by a layer of lymphoid tissue with germinal centers. The ECAS showed similar histologic features with scattered lymphoid tissue, but splenic pulp tissue was present in the wall. In both cysts, some small pancreatic islets and ducts were seen in the fibrous tissue surrounding the lymphoid layer or the splenic pulp, respectively. The lining epithelia of the LEC and the ECAS, as well as those of retention cysts of the pancreas and epidermoid cysts of the spleen used for comparison, were similarly positive with AE1/3, CAM5.2, CK7, CK13, and carcinoembryonic antigen. CA19-9 was also detected in the epithelial cells of the LEC, the ECAS, and the retention cyst of the pancreas, but not in those of the splenic epidermoid or branchial cleft cysts used for comparison. These findings indicate that LECs and ECASs might develop from the pancreatic ducts protruding into a lymph node or accessory spleen located in the pancreas, respectively. Some of both cysts might cause elevated levels of serum carcinoembryonic antigen and/or CA19-9 and should be distinguished from malignant cystic tumors.     

A connectionist account of asymmetric category learning in early infancy.

Young infants show unexplained asymmetries in the exclusivity of categories formed on the basis of visually presented stimuli. A connectionist model is described that shows similar exclusivity asymmetries when categorizing the same stimuli presented to infants. The asymmetries can be explained in terms of an associative learning mechanism, distributed internal representations, and the statistics of the feature distributions in the stimuli. The model was used to explore the robustness of this asymmetry. The model predicts that the asymmetry will persist when a category is acquired in the presence of mixed category exemplars. An experiment with 3–4-month-olds showed that asymmetric exclusivity persisted in the presence of mixed-exemplar familiarization, thereby confirming the model's prediction. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

A comparative study of human immunodeficiency virus culture, polymerase chain reaction and anti-human immunodeficiency virus immunoglobulin A antibody detection in the diagnosis during early infancy of vertically acquired human immunodeficiency virus infection

Asynchrony of delivered and spontaneous breaths in mechanically ventilated infants may impair gas exchange and prolong the need for assisted ventilation. We conducted a randomized, controlled trial of a patient-triggered, flow-synchronized ventilator on 30 preterm infants with respiratory distress syndrome who weighed between 1100 and 1500 gm at birth. Entry criteria included radiographic evidence of respiratory distress syndrome and the need for mechanical ventilation and surfactant replacement therapy. Patients were assigned to either conventional time-cycled, pressure-limited ventilation or patient-triggered, flow-synchronized ventilation in an assist/control mode. Otherwise clinical management was identical. Time to extubation was the primary outcome measure. Patients treated with flow-synchronized ventilation were weaned more rapidly and had a significantly shorter mean time to extubation than those treated with time-cycled, pressure-limited ventilation, 119 versus 271 hours, p = 0.0152. In addition, there was no difference in the rate of complications between the two groups. There were, however, considerable reductions in patient charges of $4344 per patient in the flow-synchronized ventilation group.     

A simple and reliable test for creatinine in small animal practice (author's transl)

Three simple photometers were tested for their suitability to determine concentrations of creatinine in small animal practice. Combination of the photometers with a "cuvette test" produced satisfactory results on comparison with a reliable reference method.     

Touch cytology. A reliable and cost-effective method for diagnosis of Helicobacter pylori infection

A variety of reliable methods are available for detecting Helicobacter pylori (Hp) during upper gastrointestinal endoscopy. We evaluated the clinical utility and cost-effectiveness of rapid urease test (RUT), touch cytology (TC), and histology (H). Two hundred thirty-eight consecutive patients (178 without previous medical treatment and 60 formerly treated with anti-Hp therapy) were tested for Hp infection by RUT, TC, and H (H&E stain). The infection status for each patient was established by a concordance of two test results. The time to carry out the three tests and their cost were also calculated. Sensitivity of TC (100%) was significantly higher than that of RUT (86.8%; P < 0.001), but not than that of H (94.9%). RUT was significantly more specific than H (100% vs 95.6%; P < 0.05), but not than TC (96.4%). Hp infection was more frequent in the patients with chronic active gastritis than in those with chronic nonactive gastritis (P < 0.001). No Hp infection was detected in absence of chronic antral inflammation. RUT resulted the cheapest method and H the most expensive; TC is faster and cheaper than H. When additional information about the severity of mucosal damage or the presence of cell atypias is not necessary, histologic examination can be omitted, and a cost-effective strategy for assessing Hp status might consist in taking two antral biopsies, the former for performing RUT and the latter for preparing a slide by TC, which should be stained and examined only when the RUT result is negative.     

Internal structure of voicing categories in early infancy

It is well established that young infants process speech in terms of perceptual categories that closely correspond to the phonetic categories of adult language users. Recently, Kuhl (1991) has provided evidence that this correspondence is not limited to the region of category boundaries: At least by 6-7 months of age, vowel categories of infants, like those of adults, have an internal perceptual structure. In the current experiments, which focused on a consonantal contrast, we found evidence of internally structured categories in even younger infants-3-4 months of age. The implications of these findings for the nature of the infant's earliest language-universal categories are discussed, as is the role of exposure to the native language in shaping these categories over the course of development.