Arthroplasty in the treatment of congenital anomalies of the hip in adults

At the Clinic for Orthopedic Surgery and Traumatology in Novi Sad, 79 adult patients with osteoarthritic hip dysplasia underwent total joint replacement surgery in the period 1984-1993. 45 patients were followed-up for an average time of 4.2 years. The results obtained have been evaluated following the criteria of Postel-Merle-d'Aubigne's hip rating system. After surgery 37 (82.2%) patients had minimal or no pain at all, while the hip flexion was over 75 degrees in 35 (75.5%) patients. 9% of patients could not walk longer than 20 minutes with a flexion under 50 degrees. Firm footfall and slight limp in exhaustion occurred in 35 (75.5%) patients, while 7 (15.5%) patients were extremely unstable and were able to get about on crutches. The gathered results confirm that total hip replacement in patients with osteoarthritic dysplastic hip improves stability and hip joint movement as well as pain reduction.     

Positional cloning of the Werner's syndrome gene

Werner's syndrome (WS) is an inherited disease with clinical symptoms resembling premature aging. Early susceptibility to a number of major age-related diseases is a key feature of this disorder. The gene responsible for WS (known as WRN) was identified by positional cloning. The predicted protein is 1432 amino acids in length and shows significant similarity to DNA helicases. Four mutations in WS patients were identified. Two of the mutations are splice-junction mutations, with the predicted result being the exclusion of exons from the final messenger RNA. One of the these mutations, which results in a frameshift and a predicted truncated protein, was found in the homozygous state in 60 percent of Japanese WS patients examined. The other two mutations are nonsense mutations. The identification of a mutated putative helicase as the gene product of the WS gene suggests that defective DNA metabolism is involved in the complex process of aging in WS patients.     

Positional effects in the stuttering of contextually organized verbal material.

23 stutterers read aloud 72 7-word sequences, defined and constructed according to 3 levels of contextual constraint, or order of approximation to the statistical structure of English. Measures of frequency of stuttering were taken on critical words in each of 3 positions (initial, medial, and terminal) within the experimentally constructed sequences. It was concluded that the relation between the 2 variables under investigation was an additive one, and that both word position and contextual organization are relevant factors affecting the frequency of stuttering in an oral reading situation. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Genitourinary anomalies in the CHARGE association

PURPOSE: We identified the incidence and types of genital and urinary anomalies, and established a plan for evaluating the urinary system in the CHARGE association. MATERIALS AND METHODS: We retrospectively reviewed the charts of 32 patients in whom the CHARGE association was diagnosed. RESULTS: Of the 32 patients identified 22 (69%) had genitourinary abnormalities. Genital anomalies, including micropenis, penile agenesis, hypospadias, chordee, cryptorchidism, a bifid scrotum, atresia of the uterus, cervix and vagina, and hypoplastic labia majora, labia minora and clitoris, were present in 18 patients (56%). Of the 24 patients who underwent renal ultrasound 10 (42%) were diagnosed with urinary tract anomalies including a solitary kidney, hydronephrosis, renal hypoplasia and duplex kidneys. Further evaluation revealed vesicoureteral reflux, neurogenic bladder secondary to spinal dysraphism, nephrolithiasis, ureteropelvic junction obstruction and a nonfunctioning upper pole in both duplex kidneys. CONCLUSIONS: There is a high incidence of genitourinary anomalies in the CHARGE association. Because of this high incidence of anomalies, patients with this condition should undergo a careful genitourinary evaluation, including renal and bladder ultrasound, and voiding cystourethrography screening.     

Positional preferences of ionizable residues in Gly-X-Y triplets of the collagen triple-helix

Collagens contain a high amount of charged residues involved in triple-helix stability, fibril formation, and ligand binding. The contribution of charged residues to stability was analyzed utilizing a host-guest peptide system with a single Gly-X-Y triplet embedded within Ac(Gly-Pro-Hyp)3-Gly-X-Y-(Gly-Pro-Hyp)4-Gly-Gly-NH2. The ionizable residues Arg, Lys, Glu, and Asp were incorporated into the X position of Gly-X-Hyp; in the Y position of Gly-Pro-Y; or as pairs of oppositely charged residues occupying X and Y positions. The Gly-X-Hyp peptides had similar thermal stabilities, only marginally less stable than Gly-Pro-Hyp, whereas Gly-Pro-Y peptides showed a wide thermal stability range (Tm = 30-45 degrees C). The stability of peptides with oppositely charged residues in the X and Y positions appears to reflect simple additivity of the individual residues, except when X is occupied by a basic residue and Y = Asp. The side chains of Glu, Lys, and Arg have the potential to form hydrogen bonds with available peptide backbone carbonyl groups within the triple-helix, whereas the shorter Asp side chain does not. This may relate to the unique involvement of Asp residues in energetically favorable ion pair formation. These studies clarify the dependence of triple-helix stability on the identity, position, and ionization state of charged residues.     

Positional apoptosis during vertebrate CNS development in the absence of endogenous retinoids

We have previously shown that quail embryos that develop in the absence of vitamin A have severe defects in their central nervous system. One defect is a completely missing posterior hindbrain. Here we have studied how this comes about by examining cell death using a wholemount technique. In these A- embryos we observe two narrow bands of ectopic apoptosis. One is in the mesenchyme in the region of the first somite and occurs at the 4-6 somite stage, before neural tube closure. The second band follows immediately afterwards and occurs in the neuroepithelium of the presumptive posterior hindbrain at the 6-8 somite stage. Electron microscopy shows that the dying neuroepithelial cells exhibit the characteristics of apoptosis. Rescuing the embryos by injecting retinol before gastrulation completely prevents these apoptotic events. In an effort to identify some of the genes that may be involved in the apoptotic pathway we show that Msx-2 is upregulated in the apoptotic neuroepithelium and thus may be involved, whereas Bmp-4 is not altered and thus presumably not involved. Since these apoptotic event take place at the time of specification of axial identity and segmentation in the mesenchyme and neuroepithelium we conclude that these cells die because they are wrongly specified in terms of their rostrocaudal position, a novel phenomenon which we refer to as positional apoptosis.     

Screening of congenital anomalies in the mid-trimester of pregnancy. Prospective epidemiologic study. Developmental anomalies

Authors report about the data of 60,000 pregnant women from three district counties of Eastern-Hungary between 1988 and 1990, on whom both ultrasound and alfa-fetoprotein screenings were performed. They demonstrate the value of this screening for the detection of fetal malformations and for the birth prevalence rate as well. This effective screening-protocol is proposed for a nation-wide application.     

Congenital anomalies of the hand

The toxicokinetics of the four stereoisomers of the nerve agent C(+/-)P(+/-)-soman was analysed in cerebrospinal fluid (CSF) and blood in anaesthetized, spontaneously breathing pigs during a 90-min period after injection of soman. The pigs were challenged with different intravenous (i.v.) doses of C(+/-)P(+/-)-soman corresponding to 0.75-3.0 LD50 (4.5, 9.0 and 18 microg/kg in a bolus injection and 0.45 microg/kg per min as a slow infusion). Artificial ventilatory assistance was given if, after soman intoxication, the respiratory rate decreased below 19 breaths/min. Blood samples were taken from a femoral artery and CSF samples from an intrathecal catheter. The concentrations of the soman isomers were determined by gas chromatography coupled with high resolution mass spectrometry. All four isomers of soman were detected in both blood and CSF samples. The relatively non-toxic C(+/-)P(+) isomers disappeared from the blood stream and CSF within the first minute, whereas the levels of the highly toxic C(+/-)P(-) isomers could be followed for longer, depending on the dose. Concurrently with the soman analyses in blood and CSF, cholinesterase (ChE) activity and cardiopulmonary parameters were measured. C(+/-)P(-) isomers showed approx. 100% bioavailability in CSF when C(+/-)P(+/-)-soman was given i.v. as a bolus injection. In contrast, C(+/-)P(-) isomers displayed only 30% bioavailability in CSF after slow i.v. infusion of soman. The ChE activity in blood decreased below 20% of baseline in all groups of pigs irrespective of the soman dose. The effect of soman intoxication on the respiratory rate, however, seems to be dose-dependent and the reason for ventilatory failure and death. Artificial ventilation resulted in survival of the pigs for the time-period studied.     

Are the wolffian anomalies in males the phenotype corresponding to the müllerian anomalies in females?

The Wolffian and Müllerian ducts are embryologically closely related. This survey was aimed to determine whether, as has been suggested, Wolffian duct anomalies in males are the phenotype corresponding to Müllerian anomalies in females. This was done by analysis of the phenotype of the males in associations and syndromes in which Müllerian duct anomalies are frequent, and of the phenotype of the females in families in which anomalies of the Wolffian ducts are found. It appears that the only relation between the 2 types of defects seems to be a developmental one. In cases of early insult, anomalies are seen in males and females (e.g., in the association of renal agenesis with Müllerian or Wolffian defects). On the other hand, in all the other associations or syndromes, no relation was observed. This suggests that Wolffian anomalies in males are not the phenotype corresponding to Müllerian anomalies in females.     

Positional cloning of the mouse retrovirus restriction gene Fv1

Vertebrate evolution has taken place against a background of constant retrovirus infection, and much of the mammalian genome consists of endogenous retrovirus-like elements. Several host genes have evolved to control retrovirus replication, including Friend-virus-susceptibility-1, Fv1, on mouse chromosome 4 (refs 3, 4). The Fv1 gene acts on murine leukaemia virus at a stage after entry into the target cell but before integration and formation of the provirus. Although restriction is not absolute, Fv1 prevents or delays spontaneous or experimentally induced viral tumours. In vitro, Fv1 restriction leads to an apparent 50-1,000 fold reduction in viral titre. Genetic evidence implicates a direct interaction between the Fv1 gene product and a component of the viral preintegration complex, the capsid protein CA (refs 7-9). We have now cloned Fv1: the gene appears to be derived from the gag region of an endogenous retrovirus unrelated to murine leukaemia virus, implying that the Fv1 protein and its target may share functional similarities despite the absence of nucleotide-sequence homology.     

Positional firing properties of perirhinal cortex neurons

Neuronal activity in the perirhinal cortex was recorded while rats performed a spatial task on a four arm radial maze. The maze was defined by proximal multisensory cues on the arm surfaces and distal complex visual cues at the surround. During each recording session, rats were run in three conditions: baseline, a condition in which proximal and distal cues were manipulated, and a second baseline. Compared with the activity of hippocampal neurons in the same paradigm, a much smaller proportion of perirhinal neurons exhibited spatial selectivity and perirhinal place fields were larger than hippocampal place fields. Although perirhinal place fields exhibited a high degree of spatial tuning and reliability within a condition, they were not stable across conditions.     

Malignant melanoma in the small intestine

A case story of malignant melanoma is presented. The tumour was localised to the jejunum. The symptoms, diagnosis and treatment are described and the pathogenesis is discussed.     

Arterial vascular anomalies of the retina

The incidence of nonaneurysmal congenital anomalies of the retinal arteries was determined by ophthalmoscopic examination of the eyes of 2,100 consecutive healthy individuals whose ages ranged from 6 to 68 years. Unusual anomalies were triple branching, anomalous course, arteriolar-arterial crossing, unusual tortuosity, prepapillary loops, aberrant macular arteries, unusual supply of the optic disc, presumed total ciliary arterial supply of the retina, anomalous relationship with the central retinal vein at the optic disc, and pseudoaneurysm of a major retinal artery. Cilioretinal arteries are the commonest of the congenital vascular anomalies of the retina.     

Ischemic disease of the intestine

With the remarkable progress in diagnostic techniques, the recent increase in the incidence of arteriosclerosis and the gradually aging population, a great deal of attention is now being focused on intestinal ischemia and this disease has come to be regarded as one of the clinically important pathological conditions. From the clinic aspect, special attention should be directed to the artery which is involved in intestinal ischemia. Furthermore acute superior mesenteric arterial ischemia (SMA ischemia), ischemic colitis, non-occlusive mesenteric ischemia (NOMI) require serious attentions. Few specific findings of these pathological conditions can be obtained in general examinations, therefore angiography is the most useful technique for making difinitive diagnoses. SMA ischemia and NOMI are progressive diseases and their prognoses are poor. The progress of ischemic colitis is gradual and the conservative therapy consisting of fasting, drip infusion and antibiotic administration is generally effective in treating this disease.