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Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication in 1980, hypothalamic tumors have been recognized to be a cardinal feature of PHS. In their original description of the neuropathologic features of PHS, Clarren et al. coined the term “hamartoblastoma” to characterize what they deemed to be a dual malformative and neoplastic mass of the hypothalamus. In subsequent published cases/series of PHS, the term “hamartoma” was often substituted for hamartoblastoma given what appeared to be a benign natural history of this lesion. Additional confusion in the literature has ensued since most hypothalamic hamartomas (HH) encountered on the clinical neuropathology service are “isolated” in nature (ie, no other congenital malformations) and present in a very different and stereotypical fashion with gelastic seizures and/or precocious puberty. While genomic investigations of isolated HH have begun to uncover a mutational profile of these cases, GLI3mutations have only been recognized in a small subset of isolated HH. Herein, we describe the autopsy findings from a 21-week gestational age fetus with features of PHS. Moreover, we provide a detailed description of the hypothalamic tumor affecting this fetus and propose a novel subclassification of HH, distinguishing syndromic from isolated forms based upon the presence or absence of neocortical-like areas.

Abstract: The instrumental neutron activation analysis (INAA) Advance Prediction Computer Program (APCP) is described, as well as its areas of usefulness. Particular attention is devoted to its ability to predict mgrg and ppm INAA lower limits of detection (LOD's) of any particular elements of interest in any sample matrix type of even very approximately known average or typical elemental composition. In general, INAA mgrg LOD's are found to be 10 to 100 times higher than the corresponding ldquointerference-freerdquo values, and INAA ppm LOD's are found to be 100 to even 100 000 times higher than the corresponding ldquointerference-freerdquo values calculated for a one-gram sample.

This study examines the results of a new treatment modality described in part 1 (JBMT, 1(5), 280-288). Seven women were studied for 20 months. Symptoms (VAS-rating), self-image (SASB) and body image were assessed at the start and 1 year after the therapy. An interview was carried out for an evaluation of the outcome of the therapy as well as to achieve extended knowledge about the consequences of CSA. The tests showed that the symptoms diminished by half. The self-image and body image improved in the majority; patients with most symptom reduction and positive changes in self-love also showed a positive personal relationship with their body. The open interpretation of the interviews generated four categories (the room, the control, the choice, and the gift) which are discussed in a closer analysis of the social dimensions of the CSA phenomena. The authors suggest how the approach with body awareness group therapy can be refined and developed in working with CSA.

Single subcutaneous injection of 1 or 5 mg cadmiun chloride (CdCl2) to adult male rats resulted in a significant reduction in the weights of the testis, epididymidis, vas deferens, ventral prostate and seminal vesicles. Sperm population in the vas deferens, caput and cauda epididymidis was severely reduced. Sexual drive and fertility were not changed 7 or 15 days after treatment with 1 mg CdCl2; however, a loss of libido to total sterility were encountered in animals receiving 5 mg CdCl2. The circulating testosterone and 5α-dihydrotestosterone were suppressed whereas androstenedione concentration remained unaltered. It appears that CdCl2not only affects spermatogenesis but also inhibits androgen production.

Cadmium chloride (CdCl2) given s.c. as a single injection of 1 mg/hamster significantly reduced the weights of the testes and epididymides 7 days after treatment. A suppression of testosterone (T), 5α-dihydrotestosterone (5α-DHT), androstenedione (Δ4A) and progesterone (Δ4P) in the blood serum and a marked decrease of these steroid contents in the testicular tissue were observed. Furthermore, the in vitrorelease of T, 5α-DHT, Δ4A and Δ4P by the decapsulated testis mince also was significantly reduced. A single injection of 1 mg CdCl2appeared to have a drastic deleterious effect on the steroidogenic fraction of the testis.