Long-term survival in an infant with urethral atresia

Complete urethral atresia is an anomaly that previously was incompatible with life. We report on a surviving infant with this anomaly. As a fetus urinary decompression was accomplished with a vesicoamniotic shunt. Peritoneal dialysis was initiated shortly after birth and at 9 months supramembranous scrotal inlay urethroplasty was performed to provide for egress of urine from the bladder. A maternal renal allograft was performed when he was 12 months old. When the patient was 3 1/2 years old he had normal renal function and emptied the bladder to completion through the reconstructed urethra. Although mildly delayed, he continues to progress with all developmental milestones.     

Protein nutrition and amino acid metabolism after 4 weeks of total parenteral nutrition with a mixture of 14 dipeptides: serendipitous observations on effects of sepsis in baboons

We investigated parameters of nutrition, metabolism, and organ function after 4 wk of total parenteral nutrition (TPN) in baboons receiving either dipeptides or amino acids as the nitrogen source. The two groups showed no significant difference with respect to gain in body weight, nitrogen balance, plasma and muscle concentrations of amino acids, plasma concentrations of proteins, and leucine incorporation into muscle protein. All dipeptides were efficiently utilized as evidenced by trace concentrations of dipeptides in plasma and urine; they produced no deleterious effect on the function of liver, kidney, or immune system. Development of infection in several baboons increased urinary excretion of urea nitrogen but had no effect on urinary excretion of dipeptides and amino acids with the single exception of taurine, which was greatly increased. In conclusion, the data show long-term efficacy and safety of the dipeptide mixture as the sole nitrogen source for TPN.     

Röntgenologische Befunde zur Keimlage und zum Durchbruch der dritten Molaren

Zusammenfassung Keimlage und Durchbruchsweg der dritten Molaren, wie sie auf Orthopantomogrammen zu beobachten sind, wurden analysiert. Die Weisheitszahnkeime wurden nach ihrem Entwicklungsgrad (modifiziert nachGAT) eingeteilt und ihre Position nach den Parametern Platzangebot im retromolaren Raum, Position der M₃ zu den M₂, vertikale Position, vorliegende Rotation, sowie Zahnachsenwinkel M₁–M₃ bestimmt. In einer Querschnittsuntersuchung wurden 445 Orthopantomogramme von 245 Patienten ausgewertet. Die Ergebnisse dieser Untersuchung konnten in einer Longitudinalstudie mit 129 Patienten, bei denen zwei oder mehrere Orthopantomogramme direkt aufeinanderfolgender Entwicklungsstufen vorlagen, bestätigt werden. Es zeigt sich, daß eine sichere Prognose für eine spätere Einstellung oder Verlagerung der dritten Molaren des Unterkiefers, anhand der verwendeten Parameter nicht vor dem Übergang von Zahnbildungsphase 3 auf 4 möglich ist (Abbildung 7). Die Einstellung der oberen dritten Molaren erscheint in dem vorliegenden Patientengut wesentlich problemloser. Abweichungen vom regulären Durchbruchsweg wurden nur bei Weisheitszahnkeimen mit ausgeprägter primär dystoper Keimlage gefunden.

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Summary The position of the tooth follicle and the eruptive path of third molars was analysed with the help of orthopantomograms. The wisdom teeth follicles were classified according to their stage of development, and their position determined by the following parameters: space available in the retromolar area, relation of the third molars to the second molars, their vertical position, observed rotation and also the axial angle between the first and the third molars. A random sample study of 445 orthopantomograms of 245 patients was carried out. The results of this study could be confirmed in a longitudinal study conducted on 129 patients. The impaction of the third molar is a complex multifactorial mechanism. This study showed that it was not possible within the defined parameters, to predict the eruptive patterns of the mandibular third molars, until the transition of the tooth development from stage 3 to stage 4. The eruption of the maxillary third molars appeared to be relatively unproblematic in the study group. Deviations from the normal eruptive path were observed only in wisdom teeth with a pronounced primary ectopic position of the follicle.

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Résumé La position des follicules dentaires des dents de sagesse ainsi que le chemin suivi par les dents en formation ont été examinés tels qu'ils se présentent sur les orthopantomographies. Les follicules dentaires des dents de sagesse ont été classés d'après leur stade de développement et d'après leur position, définie par les paramètres suivants: «place disponible dans la sphère rétromolaire», «position des dents de sagesse par rapport aux dents de douze ans», «position verticale», «rotation constatée», «angle formé par les axes dentaires des dents de six ans jusqu' aux dents de sagesse». 445 orthopantomographies des 245 patients ont été analysées dans une étude horizontale. Les résultats de cette étude ont pu être confirmés par une analyse longitudinale faite à partir de 129 patients. Il apparait qu'on ne peut pas diagnostiquer avec certitude la future mise en place ou le déplacement des dents de sagesse du maxillaire inférieur à partir des paramètres utilisés avant le passage de la phase de formation no. 3 à la phase no. 4 (Fig. 7). La mise en place des dents de sagesse supérieures semble poser beaucoup moins de problèmes chez les patients examinés. Seules les dents de sagesse dont les follicules étaient nettement mal placés dès l'origine ont présenté des déviations dans le chemin suivi par la dent en formation.

     

A one-year follow-up of fatigued patients

To better understand the complaint "fatigue" and the characteristic features of patients who present with this problem, a one-year follow-up study was performed in a county health center. One hundred-fifteen fatigued adults were identified using scores on the Rand Index of Vitality (RIV). One hundred thirty-nine patients of similar age, sex, and socioeconomic status were identified as nonfatigued. One year later, these patients were followed up with a chart review, reassessment of fatigue (by RIV score), and a telephone interview. Seventy-three (64 percent) fatigued and 72 (53 percent) nonfatigued patients provided this information. On the RIV, 31 patients moved from the fatigued group to nonfatigued, and 15 nonfatigued patients' scores changed to the fatigued category. Patients categorized as fatigued in 1984 (by RIV score) returned for office visits more often (mean of 3.85 vs 2.51, P less than .05), and developed significantly more new diagnoses (2.75 vs 1.68, P less than .05) over the follow-up year, compared with those not fatigued. Fatigued patients also had a greater proportion of diagnoses containing a psychologic component than nonfatigued patients. Persistence of fatigue over the year was significantly associated with race and education (nonwhites and those completing high school remaining fatigued). No significant association between marital status, age, sex, employment status, and either the resolution or development of fatigue over the year was found.     

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder, which mainly affects females, can be inherited in a single pedigree with lissencephaly, a more severe disease which affects the male individuals. This clinical entity has been described as X- SCLH/LIS syndrome. Recently we have demonstrated that the doublecortin gene, which is localized on the X chromosome, is implicated in this disorder. We have now performed a systematic mutation analysis of doublecortin in 11 unrelated females with SCLH (one familial and 10 sporadic cases) and have identified mutations in 10/11 cases. The sequence differences include nonsense, splice site and missense mutations and these were found throughout the gene. These results provide strong evidence that loss of function of doublecortin is the major cause of SCLH. The absence of phenotype-genotype correlations suggests that X-inactivation patterns of neuronal precursor cells are likely to contribute to the variable clinical severity of this disorder in females.