XX true hermaphroditism in Southern African Blacks: Exclusion of SRY sequences and uniparental disomy of the X chromosome

A molecular investigation of 16 Bantu-speaking Black XX true hermaphrodites was undertaken in an attempt to determine the cause of the disorder. Y-specific sequences, including sequences mapping to the sexdetermining region of the Y, were shown to be absent from lymphocyte tissue of all 16 patients tested. Y chromosome sequences were also absent from the ovarian and testicular components of both ovotestes of a single XX true hermaphrodite, thus excluding gonadal mosaicism involving Y chromosome sequences. Since there is evidence for Xp genes involved in testis determination/differentiation, uniparental disomy of the X chromosome was investigated in 14 XXTH families. Uniparental disomy was excluded in 12 of the 14 families, and isodisomy was excluded in the remaining two cases. © 1995 Wiley-Liss, Inc.     

Efficacy and safety of hypromellose in ocular implant surgery

In order to assess the efficacy of hypromellose as a viscoelastic substance in cataract surgery with posterior chamber intraocular lens implantation, we studied a series of 88 cases who underwent surgery with either alternate use of a viscoelastic substance (hypromellose, 39 patients, or sodium hyaluronate, 5 patients) or air (44 patients) in the anterior chamber. Endothelial cell loss was least in the group in which air was used (18 +/- 3% cell loss, mean +/- SEM), compared with hypromellose (26 +/- 3%) and sodium hyaluronate (28 +/- 6%), but the difference in percentage cell loss between the groups did not reach statistical significance. Some operative difficulties were encountered in both groups. In both the air and hypromellose groups there were two patients with an early postoperative rise in intraocular pressure, but this was easily controlled, and in both groups there were two patients with postoperative corneal oedema which soon cleared. Visco-elastic substances used in this study were not shown to be superior to air in protecting the corneal endothelium. For this reason use of hypromellose should be confined to situations where its use is likely to confer some special advantage, as in the presence of a bound-down pupil in patient's with chronic glaucoma or perhaps to facilitate "in the bag" implantation.     

Dilute solutions of phenylephrine and pilocarpine in the diagnosis of disordered autonomic innervation of the iris. Observations in normal subjects, and in the syndromes of Horner and Holmes-Adie

A standardized method of testing irideal sensitivity to 1% phenylephrine and 0.05% pilocarpine is described, and a quantitative basis for pupillary neurotransmitter "supersensitivity" established. In a normal 20-year-old subject the pupillary diameter increases in bright light by no more than 2.1 mm 1 h after ocular application of phenylephrine; this figure should be adjusted for age since "phenylephrine sensitivity" of the iris increases by 0.23 mm per decade. The pupillary diameter, when measured in darkness, has normally decreased by less than or equal to 1.4 mm within 30 min of administration of pilocarpine. Differences in drug-induced diameter alterations between pairs of pupils should not normally exceed 0.7 mm for phenylephrine or 0.4 mm for pilocarpine. Seventy one percent of sympathetically denervated or decentralized (Horner's) pupils and 41% of parasympathetically denervated ("tonic") pupils are abnormally responsive or "supersensitive" to dilute solutions of phenylephrine and pilocarpine respectively. Supersensitivity to these agents is therefore a useful but not invariable diagnostic feature of disturbed irideal innervation.     

Effect of heated humidified gases on temperature drop after cardiopulmonary bypass

In an attempt to prevent the decrease in nasopharyngeal temperature (NPT) ("afterdrop") after cardiac surgery, 30 patients undergoing hypothermic cardiopulmonary bypass (CPB) were randomly assigned to receive humidified heated inspired gases at 45 degrees C at the proximal end of the endotracheal tube (group I) or dry gases at room temperature (group II), from the time of termination of CPB. All patients received high flow rates on CPB during the rewarming period with the use of vasodilator drugs when necessary. Both groups were comparable with respect to total bypass time, rewarming time, and temperature at termination of CPB. In addition, the NPT was compared with the tympanic membrane temperature (TMT) in group I to assess the validity of the NPT under these conditions. The results indicate that heating and humidifying inspired gases do not prevent afterdrop and do not falsely increase the nasopharyngeal temperature. The reasons for the ineffectiveness of heated humidified gases may include a large heat deficit at termination of CPB despite a normal NPT, and the very small heat content of heated gases. Monitoring the temperature of a site that reflects the heat deficit, and a more complete rewarming during CPB are suggested as a better approach to the prevention of afterdrop.     

Surgeon experience contributes to improved outcomes in pancreatoduodenectomies at high risk for fistula development

BackgroundPancreatoduodenectomies at high risk for clinically relevant pancreatic fistula are uncommon, yet intimidating, situations. In such scenarios, the impact of individual surgeon experience on outcomes is poorly understood.MethodsThe fistula risk score was applied to identify high-risk patients (fistula risk score 7–10) from 7,706 pancreatoduodenectomies performed at 18 international institutions (2003–2020). For each case, surgeon pancreatoduodenectomy career volume and years of practice were linked to intraoperative fistula mitigation strategy adoption and outcomes. Consequently, best operative approaches for clinically relevant pancreatic fistula prevention and best performer profiles were identified through multivariable analysis models.ResultsEight hundred and thirty high-risk pancreatoduodenectomies, performed by 64 surgeons, displayed an overall clinically relevant pancreatic fistula rate of 33.7%. Clinically relevant pancreatic fistula rates decreased with escalating surgeon career pancreatoduodenectomy (–49.7%) and career length (–41.2%; both P < .001), as did transfusion and reoperation rates, postoperative morbidity index, and duration of stay. Great experience (≥400 pancreatoduodenectomies performed or ≥21-year-long career) was a significant predictor of clinically relevant pancreatic fistula prevention (odds ratio 0.52, 95% confidence interval 0.35–0.76) and was more often associated with pancreatojejunostomy reconstruction and prophylactic octreotide omission, which were both independently associated with clinically relevant pancreatic fistula reduction. A risk-adjusted performance analysis also correlated with experience. Moreover, minimizing blood loss (≤400 mL) significantly contributed to clinically relevant pancreatic fistula prevention (odds ratio 0.40, 95% confidence interval 0.22–0.74).ConclusionSurgeon experience is a key contributor to achieve better outcomes after high-risk pancreatoduodenectomy. Surgeons can improve their performance in these challenging situations by employing pancreatojejunostomy reconstruction, omitting prophylactic octreotide, and minimizing blood loss.     

Cytochemical staining and ultrastructural characteristics of peripheral blood leucocytes from the yellow rat snake (Elaphe obsoleta quadrivitatta)

Cytochemical staining and ultrastructural characteristics of peripheral blood leucocytes from the yellow rat snake are described. A panel of cytochemical stains, including demonstration of myeloperoxidase, acid phosphatase, naphthol AS-D chloracetate esterase, alpha-naphthol butyrate esterase and alkaline phosphatase activities; and periodic acid-Schiff and Sudan Black-B staining was performed. Snake heterophils lacked peroxidase, alkaline phosphatase and acid phosphatase activity. Azurophils stained positively for all stains except alkaline phosphatase activity. Lymphocytes showed positive acid phosphatase activity. Differentiation of thrombocytes from lymphocytes was very difficult even with cytochemical staining. Only a minor staining difference was observed with periodic acid-Schiff stain. Thrombocytes exhibited coarse, dark, purple stippling usually located in the polar area of the cytoplasm, whereas lymphocyte staining varied from none to very fine, pale pink granules dispersed throughout the cytoplasm. Ultrastructural characteristics were similar to those of mammalian leucocytes with the exception that the snake basophil granules have no crystalline matrix, and heterophil granules appeared as large, elongate, membrane bound structures of varying density with no distinct core or matrix.     

Craniofacial morphology and tooth wear: a longitudinal study of orthodontic patients

Previous research has suggested that a relationship exists between craniofacial morphology and tooth wear. The primary objective of this study was to determine whether an individual's craniofacial morphology during childhood is related to the degree of tooth wear that occurs in that same individual's adult dentition. Pretreatment orthodontic records taken during the mixed dentition (T1) and follow-up records taken an average of 20 years later (T2) were available for 165 orthodontic patients. Incisal/occlusal tooth wear was measured on a tooth-by-tooth basis from T1 and T2 casts using a four-category scoring system. Measures of craniofacial morphology were made from the T1 lateral cephalometric radiograph. Multiple regression analysis indicated that adult wear was associated with the T1 cephalometric measures of ANB (p = 0.017) and the interaction between ramal height and sex (p = 0.039). These results suggest that the craniofacial morphology observed during childhood has a small but significant relationship to adult tooth wear.     

Acute hepatitis B infection in England and Wales: 1985-96

Confirmed acute hepatitis B infections are reported to the Public Health Laboratory Service Communicable Disease Surveillance Centre by laboratories in England and Wales. These reports have been used to monitor trends in the incidence of hepatitis B virus (HBV) infection over time, and between exposure categories and age groups. Between 1985 and 1996 a total of 9252 cases of acute HBV infection were reported; the number of reports fell from 1761 in 1985 to 581 in 1996. Most infections were reported in adults aged 15-44 years [n = 7365 (80%)], and infections were more commonly reported in males [n = 6490 (70%)] than females [n = 2658 (29%)]. The probable means of acquisition was known for just over half of all adult cases [4827/8956 (54%)]. Injecting drug use was the most common exposure [n = 1901 (21%)], followed by sex between men and women [n = 1140 (13%)] and sex between men [n = 1025 (11%)]. The number of infections in injecting drug users fell in the late 1980s, but increased again from 1991 onwards. In children aged under 15 years, infections acquired by mother to baby transmission accounted for 35/170 (21%) of the total. Surveillance indicates that the incidence of acute hepatitis B infection fell in the late 1980s, probably reflecting changed behaviour in injecting drug users. An increase in the number of infections in injecting drug users since 1993 may indicate ongoing transmission that has not been contained by the introduction of needle exchange schemes or by selective vaccination.     

Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1)

Patients with X-linked Ig deficiency with normal or elevatedIgM (HIGMX-1) fail to switch from IgM/IgD to other Ig isotypes.Interaction between the B cell antigen CD40 and the CD40 ligandexpressed on activated T cells is critical for T cell drivenisotype switching. We have reported that T lymphocytes fromthree unrelated male patients with HIGMX-1 failed to expressCD40 ligand on their surface, but the mRNA for CD40 ligand wasof an apparently normal size and level. Analysis of CD40 ligandcDNA from two of the patients revealed deletions that alterthe reading frame. Patient 1 displayed two mutations: a C Atransversion at nucleotide 590 and the deletion of an adjacentC nucleotide. The second patient had a 58 bp deletion from nucleotides289–346. Furthermore, neither patient expressed a proteinproduct detectable by the CD40L mAb, 5c8.