CYP11β1 (11-beta-hydroxylase) deficiency in congenital adrenal hyperplasia

Objective : To review experience of CYP11β1 deficiency (previously known as 11β-hydroxylase) at the Royal Children's Hospital, Melbourne, Victoria.
Methodology : A retrospective case review was conducted from 1974 to 1995 with five cases identified.
Results : Age of presentation ranged from 1 day to 7 years. Presentation was with ambiguous genitatia at birth (two females), simple virilization (two males) and suspected early puberty in mid childhood (one female). Associated clinical features were hypertension (three cases) and tall stature with markedly advanced bone age (four cases). Biochemical abnormalities consistent with CYP11β1-deficiency were elevated urinary tetrahydro-11-deoxycortisol ( n = 5) and elevated serum 11-deoxycortisol ( n = 3). Additional abnormalities were elevated 17-hydroxyprogesterone ( n = 3), elevated androstenedione ( n = 4) and elevated dehydroepiandrosterone sulphate ( n = 4). The clinical features and investigations suggested CYP11β1-classical deficiency in four patients and CYP11β1-non-classical deficiency in one patient.
Conclusions : The five cases of CYP11β1-deficiency demonstrate a spectrum of clinical abnormalities, with diagnostic difficulties in two cases and delayed presentation in three cases. Prompt diagnosis of CYP11β1-deficiency is facilitated greatly by the availability of a gas chromatography-mass spectrometry instrument and is essential to avoid the long-term effects of hypertension and hyperandrogenism.     

Synaptic terminals in the ventroposterolateral nucleus of the thalamus from neurons in the dorsal column and lateral cervical nuclei: an electron microscopic study in the cat

Summary The afferent fibres to the ventroposterolateral nucleus (VPL) of the contralateral thalamus from neurons in the dorsal column nuclei (DCN) and the lateral cervical nucleus (LCN) were labelled by anterograde transport of wheat germ agglutinin-horseradish peroxidase conjugate and subsequent histochemical processing with tetramethyl benzidine. In accordance with the results of previous light microscopical studies using the degeneration method or autoradiographic tracing technique, the distribution of the afferents from the DCN and LCN in the VPL differed considerably. Thus the DCN terminals, which were calculated to constitute about 7–8% of the total number of boutons in the VPL, were found throughout the entire VPL, whereas the LCN terminals were mainly located in its dorsal and dorsolateral parts, where they made up about 1% of the total number of boutons. However, the morphology and synaptic organization of the terminals from the DCN and LCN were virtually identical. Thus the synaptic terminals of the two afferent pathways seemed to be represented by large boutons of a similar type, which had large, slightly oval and loosely packed synaptic vesicles and contained numerous mitochondria. Both DCN and LCN terminals synapsed preferentially on medium-sized to large dendrites, but were also presynaptic to other vesicle-containing profiles, probably of internuncial origin, which in turn were in synaptic contact with the same dendrites as the labelled ones.It is suggested that the differences in physiological properties between the somatosensory information that is transmitted to the somatosensory cortex via the dorsal column-medial lemniscus pathway and the spino-cervico-thalamic tract do not seem to have a counterpart in differences in the synaptic organization of their relay in the VPL.     

The Angiographic Findings in a Haemophilic Pseudotumour of Bone

The angiographic findings in a patient with haemophilic pseudotumour of the femur are presented. The examination showed the position of the displaced femoro-poplited vessels, enabling these structures to be avoided at operation. Under anti-haemophilic globulin cover no complications occurred. It is suggested that angiography may be safely employed provided the coagulation defect is controlled. The examination may be useful in differentiating other bone lesions and in defining more clearly the extent of a haemophilic pseudotumour.     

The mesorectum: morphometric assessment with magnetic resonance imaging

The purpose of the present study was to assess the size and configuration of the perirectal fatty tissues using magnetic resonance imaging, including the volume occupied by the rectum itself, and to establish a simple method by which such analysis could be derived. Included in the study were 25 consecutive patients without any large pelvic tumor (diameter of potential pelvic tumor less than 3 cm in any plane) referred for high-resolution pelvic MR imaging. The volume and cross-sectional parameters based on the amount of mesorectum to different sides of the rectum, and the total area occupied, including the rectum, were retrospectively measured using a transaxial three-dimensional T1-weighted gradient–echo sequence. The mesorectum, including the rectum within, occupied an axial area ranging from 320 to 5992 mm², and a total volume of 54–323 ml. There was a good correlation between anteroposterior diameter of the perirectal fat at 4 cm below S1-2 and the left-to-right diameter 7 cm below S1-2, and the total volume. Furthermore, the form of mesorectal tissue differed significantly between male and female subjects. In male subjects, measurements in the anteroposterior dimension accurately reflected the volume of mesorectal tissue, while in women, assessment of both the anteroposterior and the size parameters of the mesorectum from the left to right were required for the best evaluation of the volume of mesorectal tissue. The amount of fat posterior to the rectum was significantly more in men than in women, with or without consideration of length of the pelvis. Finally, the contour of the mesorectal fascia was subject to impression by other nearby visceral organs. There is a great individual variation in the amount of mesorectal fat, and in morphometric parameters between the two sexes. The morphological variations of the mesorectum can be assessed by magnetic resonance imaging using a formula based on two simple measurements of the anteroposterior and left-to-right dimensions.     

Forebrain patterns of c-Fos and FosB induction during cancer-associated anorexia-cachexia in rat

Forebrain structures are necessary for the initiation of food intake and its coupling to energy expenditure. The cancer-related anorexia-cachexia syndrome is typified by a prolonged increase in metabolic rate resulting in body weight loss which, paradoxically, is accompanied by reduced food intake. The aim of the present work was to study the forebrain expression of Fos proteins as activation markers and thus to identify potential neurobiological mechanisms favouring catabolic processes or modulating food intake in rats suffering from cancer-related anorexia-cachexia. Neurons in forebrain structures showing most pronounced induction of Fos proteins were further identified neurochemically. To provoke anorexia-cachexia, cultured Morris hepatoma 7777 cells were injected subcutaneously in Buffalo rats. This resulted in a slowly growing tumour inducing approximately 7% body weight loss and a 20% reduction in food intake when the tumour represented 1-2% of body mass. Anorexia-cachexia in these animals was found to be accompanied by Fos induction in several hypothalamic nuclei including the paraventricular and ventromedial hypothalamus, in the parastrial nucleus, the amygdala, the bed nucleus of the stria terminalis, ventral striatal structures and the piriform and somatosensory cortices. Neurochemical identification revealed that the vast majority of FosB-positive neurons in the nucleus accumbens, ventral caudate-putamen and other ventral striatal structures contained prodynorphin or proenkephalin mRNA. These findings indicate that forebrain structures that are part of neuronal networks modulating catabolic pathways and food ingestion are activated during tumour-associated anorexia-cachexia and may contribute to the lack of compensatory eating in response to weight loss characterizing this syndrome.     

A retrospective study of dental behavior management problems in children with attention and learning problems

Attention and learning problems in children are common. The aim of this study was to investigate whether children with attention and learning problems had more dental behavior management problems (BMP), more cancelled and missed appointments, and more traumatic dental injuries compared with a control group. All children born in 1991 attending mainstream schools (n = 555) in one Swedish municipality were screened for behavioral and learning problems. Conners' 10-item questionnaire and a questionnaire focused on executive and learning problems were used. A total of 128 screen-positive patients were index cases and 131 screen-negative patients control cases. The dental records of these children were studied from 1 yr of age until the child reached 10 yr. Behavior management problems on at least one occasion were more common in the index group (54% vs. 37%). The percentage of appointments at which the children exhibited BMP was higher in the index group (13% vs. 7%). No differences were found for cancelled or missed appointments or dental traumatic injuries between the two groups. In conclusion, the results of this study show that children with attention and learning problems had significantly more dental behavior management problems compared with a control group.     

Mechanical consequences of short gastric vessel division at the time of laparoscopic total fundoplication

Laparoscopic Nissen fundoplication is currently the most commonly practiced antireflux operation. Some adverse consequences of the operation remain in the form of mechanical side effects, labeled postfundoplication complaints, of which dysphagia and gas bloat seem to predominate. Measures have been suggested to counteract some of these and one frequently advocated has been division of the short gastric vessels to create a short-floppy wrap. The advantages of this are still debated, particularly in the long-term perspective. The aim of the present study was to evaluate the mechanical consequences of dividing all short gastric vessels at the time of a laparoscopic total fundoplication. Ninety-nine patients with chronic gastroesophageal reflux disease (GERD) were originally allocated on a random basis to have either all short gastric vessels divided or left intact at the time of a laparoscopic total fundoplication. A subsample of these patients, again selected at random, were recruited for a comprehensive manometric investigation 1 year after the operation. In this cohort, 12 patients had all short gastrics divided and in 12 patients, the wrap was done with intact vessels by use of the anterior portion of the fundus. Manometry was carried out by the use of a sleeve sensor to straddle the lower esophageal sphincter (LES), and gastric distension (750 ml air) was used to trigger transient LES relaxations (TLESR). The basal LES tone was similar in the two groups (14.2 ± 2.4 and 18.8 ± 4.3, mean ± SE), respectively. Accordingly, all other relevant manometric variables were equal when the two groups were compared, except for the total number of TLESRs (triggered by gastric distension by air) that were significantly higher (p < 0.02) in patients having their short gastric vessels intact. Consequently, numerically more common cavities were recorded in the latter group. Very similar outcomes in terms of motor function of the LES and esophageal body were observed after a total fundoplication irrespective of whether a complete division of all gastric vessels had been carried out or not. However, after gastric distension with air, more TLESRs were recorded in the latter group suggesting a better maintained ability to vent air from the stomach.     

Consequences of olfactory loss and adopted coping strategies

The aims of this study were to investigate the effects of loss of smell as regards the quality of life and the coping strategies used. METHODS: Seventy-two patients with anosmia (46%) or hyposmia (54%) filled in the validated Multi-Clinic Smell and Taste Questionnaire, the validated General Well-being Schedule (GWBS), and answered other questions shown to be of good validity. RESULTS: Several kinds of negative effects, risks associated with the loss, interference with daily routines and deteriorations in well-being were common. Physical health, financial security, profession, partnership, friendship, emotional stability and leisure were also deemed to be negatively affected and GWBS scores show compromised psychological well-being. The importance of olfaction seemed to be more noticeable after the loss of smell, and several kinds of problem- and emotion-focused coping strategies were adopted by these patients. CONCLUSIONS: We found that the loss of smell had substantial adverse effects on the quality of life and that high priority should be given to its diagnosis and treatment and to further research in this field. Furthermore, a combination of problem- and emotion-focused coping strategies may be suggested to patients who have recently lost the sense of smell.