Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome

Expansion of triplet repeats has been seen to underlie several disorders that manifest anticipation. Clinical evidence suggests that anticipation occurs in the major psychoses. We studied the distribution of repeat sizes at the Machado-Joseph disease (MJD) locus in a group of patients with the major psychoses. We did not find any large expansions, though 2 patients had alleles that were two repeats larger than in our controls. The difference in allele sizes was larger in the patient sample as compared to the controls. The effect of such large differences might be of functional significance.     

Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers

We describe a previously unrecognized syndrome in two brothers with short stature, webbed neck, unusual face, moderate malsegmentation of the lumbar spine, and unilateral Legg-Perthes-Calvé type "disease" of the hip. Autosomal recessive inheritance is proposed, although we cannot exclude the possibility of an X-linked recessive or an autosomal dominant condition with germinal mosaicism.     

Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?

Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome. We report a family with two sibs showing some of these features and congenital adhesions between the upper and lower jaws (alveolar synechiae). There seems to be a recessive pattern of inheritance as neither of the parents has any features of the syndrome. This could be described as a recessive form of Hay-Wells syndrome with additional features or be named as a new syndrome.     

Microcephaly with short stature, macrocytosis, and pancytopenia

Sporozoites of Cryptosporidium parvum were incubated in 1:10 dilutions of immune or non-immune, heat-inactivated lamb serum specimens or serum fractions. The infectivity of treated sporozoites was assessed by inoculating them, per rectum, into five-day-old rats followed by histological examination of their intestines at either three or five days after infection. The infectivity of sporozoites treated with heat-inactivated whole sera was greatly reduced. This neutralisation had both specific and non-specific components. The former was associated with the IgG fraction of hyperimmune serum raised against sporozoites and the latter with a heat-stable, non-dialysable component present in both IgG-depleted hyperimmune serum and uninfected gnotobiotic serum.     

Closure of cleft palate in adult patients, using a forearm flap with microvascular radial artery II

A clinical report on the utilization of the so called "Chinese Flap" first published in 1981 is presented by the authors. The basic principle of this method is the following: After closing the soft palate in three layers, a mucoperiosteal flap has been prepared from the palatal mucosa and rotated into the nasal cavity so to close nasally the defect in one layer. Than a pediculated fasciocutaneous flap containing both the radial artery and the two comitantes veins prepared from the forearm was sutured to the defect. The a radialis and the v. comitantes running forward and downward between the two layers of the soft palate passing the mandibular ramus and descending through a tunnel leading to the submandibular region were joined to the facial artery and veins and an anastomosis was established. The clinical experience with the "Chinese Flap" procedure showed good results. This method has been used in 12 cases so far and only one out of the 12 failed due to blood vessel developmental abnormalities.     

Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome

AIM: To study the relationship between the calcium and the release of platelet-activating factor (PAF) from rat peritoneal macrophages (PM?) stimulated by lipopolysaccharides (LPS). METHODS: The effects of tetrandrine (Tet), Fura 2-AM, and Bay k 8644 on the PAF release from rat PM? was investigated by the bio-assay of PAF. RESULTS: LPS stimulated PM? to release PAF, without increasing intracellular Ca2+ of PM?, Tet at 0.1, 1.0, 10, 100 mumol.L-1 and Fura 2-AM at 0.01, 0.1, 1.0, 10 mumol.L-1 could dose-dependently decrease the release of PAF (9.8 +/- 1.2, 6.5 +/- 1.6, 4.7 +/- 0.8, 3.4 +/- 0.4 microgram.L-1 and 9.2 +/- 1.7, 5.2 +/- 1.3, 3.7 +/- 0.4, 3.2 +/- 0.3 microgram.L-1, respectively, no drugs 11.8 +/- 1.2 micrograms.L-1), Bay k 8644 at 1.0, 5.0, 10 mumol.L-1 could dose-dependently increase the release of PAF (13.2 +/- 1.7, 16.2 +/- 1.4, 17.6 +/- 1.5 micrograms.L-1), and the effects of Tet and Fura 2-AM were completely or partly reversed by Bay k 8644 at 5.0 mumol.L-1. CONCLUSION: Although LPS did not increase intracellular Ca2+ of PM?, intracellular Ca2+ was necessary for PAF release from rat PM? stimulated by LPS.     

The Wolfram syndrome: diabetes mellitus, hypacusis, optic atrophy and short stature in STH deficiency

HISTORY AND CLINICAL FINDINGS: A 43-year-old man was known for 3 years to have diabetes mellitus. For 2 months before admission he had symptoms of hyperglycaemia with polyuria, polydipsia, weight loss, as well as impairment of vision and declining fitness. In addition to bilateral deafness he was clearly of normally proportioned short stature (150 cm). INVESTIGATIONS: The levels of blood sugar (221 mg/dl), HbA1c(10.2%), triglycerides (496 mg/dl) and cholesterol (323 mg/dl) were raised, while the concentration of somatotropic hormone was diminished, both before and after arginine administration. Fundoscopy revealed concentric diminution of the visual fields with left amblyopia. Visual evoked potentials and colour sense testing revealed bilateral optical atrophy, and the audiogram demonstrated deafness. These findings provided the diagnosis of Wolfram syndrome, namely insulin-dependent diabetes mellitus, deafness, optical atrophy and small stature with somatotropic hormone deficiency. TREATMENT AND COURSE: On insulin treatment the metabolic state became normal (HbA1c 7.5%, normal lipid profile). It was decided that the deficiency in somatotropic hormone regulation did not require treatment. CONCLUSION: Cardinal symptoms of the autosomally recessive Wolfram syndrome are insulin-dependent diabetes and optic nerve atrophy. Several types of hormonal abnormalities are associated with it, including a deficiency in the somatotropic axis. To obtain early and adequate hormonal substitution requires extensive endocrinological diagnosis of a disease which frequently becomes manifest in childhood or adolescence.     

Assessment of the patient with cleft lip and palate. A developmental approach

Children with cleft lip and palate require interdisciplinary team care from infancy through adolescence. An understanding of developmental stages allows the cleft palate team to adapt and integrate its services into the rapidly changing life of the child. This article discusses the maturational, developmental stages of childhood and the services the child with cleft lip and palate and the child's family deserve through each stage. Health care providers in all settings may continue to provide appropriate care for all patients with cleft lip and palate, despite the challenges of a changing health care environment, by emphasizing the needs of the child in all developmental stages.     

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.     

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome?

Antagonistic interactions in mixed culture of methanotrophic bacteria Methylomonas methanica 12 and Methylocystis minimus 33 were investigated. The inhibitory action of Mcs. minimus exometabolites against Mm. methanica grown in liquid medium was found to be specific. Ultrafiltration established that the molecular weight of the substance having inhibitory activity lies within the range 2-10 kD. The activity is protease sensitive and relatively stable to heating. Electrophoretic analysis showed that a protein with molecular weight of approximately 8 kD prevailed in Mcs. minimus culture liquid. When Mm. methanica cells were incubated in culture liquid of Mcs. minimus, the sorption of the 8 kD protein by target cells was observed. This suggests that the inhibitory effect may be associated with the 8 kD protein which has properties similar to known bacteriocins.     

Acquisition of linguistic and cognitive skills by children with cleft palate

This study compared the early cognitive and linguistic development of young children with cleft palate (N = 28) to that of noncleft children (N = 29). Measures included the Mental scale of the Bayley Scales of Infant Development, the Minnesota Child Development Inventory, Mean Length of Utterance, and words acquired by 24 months. Children with cleft palate, although well within the normal range, performed significantly below the children in the control group on the Mental Scale of the Bayley Scales of Infant Development, some subscales of the Minnesota Child Development Inventory, and words acquired by 24 months. Differences observed in the cognitive development of children with and without cleft palate were verbal as opposed to nonverbal (i.e., linguistic in nature) and were related to hearing status at 12 months and velopharyngeal adequacy.     

Dental maturity in children of short stature, with or without growth hormone deficiency

Macrophages are important constituents of the immune system by exerting phagocytosis on invading pathogens as well as secreting various immunoregulatory factors. Generation of human macrophage hybridoma has not been possible so far due to the lack of an appropriate fusion partner cell line. In the present study, an 8'-azaguanine resistant cell line, termed HL-60R, was established by drug selection of the promyelocytic cell line HL-60. This novel cell line showed resistance to high concentrations of 8'-azaguanine and was sensitive to aminopterin. These characteristics make it suitable for serving as a potential fusion partner cell line in the development of macrophage hybridoma. Cell-surface analysis by FACS revealed that HL-60R cells per se do not express MHC-class II molecules or the macrophage marker, CD11b. PEG-mediated fusion of HL-60R was performed with PBMC-derived human macrophages. Fluorescence labelling of ex vivo isolated macrophages prior to fusion and subsequent FACS analysis showed that PEG-4000 is a more effective fusion agent than PEG-1500. The generation of this novel fusion partner cell line opens the possibility for development of human macrophage hybridoma or other cell lines from myelocytic origin. Such hybridoma clones will not only enable a more convenient study of these cell but will also provide an excellent host site for the proper production and expression of various recombinant proteins from myelocytic origin in vitro.     

Abnormalities of the maxillary incisors in children with cleft lip and palate

Dental anomalies of the maxillary anterior teeth were studied in seventy-seven children affected by unilateral and bilateral clefts of the lip and alveolar process, with or without involvement of the palate. As for the permanent lateral incisor in the cleft area, our results show that its congenital absence is the most frequent abnormality followed by anomalies in size and shape and supernumerary teeth. Enamel hypoplasia was found to affect the permanent central incisor on the cleft side more frequently. Early recognition of tooth abnormalities during the primary dentition phase for an interceptive treatment of potentially severe problems was emphasized.     

Congenital short bowel syndrome associated with appendiceal agenesis and functional intestinal obstruction

Congenital short bowel with functional intestinal obstruction and absence of appendix vermiformis is a very rare condition with poor prognosis. Seventeen cases of congenital short bowel have been reported previously in the literature. The etiology is unknown. In this report, a case of congenital short bowel, combined with functional intestinal obstruction, mal-rotation, and absence of the appendix vermiformis, is presented and the pathogenesis discussed.