Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome

A new case of the Baller-Gerold syndrome is described in a 6 1/2-year-old, black male who presented at birth with bilateral synostoses of the coronal and lambdoidal sutures, bilateral radial aplasia, vertebral anomalies and genito-urinary malformations. The parents and siblings were unaffected, and there was no history of consanguinity. A review of the history and physical findings in our patient and in the four other patients previously reported in the literature is provided, with a discussion on pathogenesis, prognosis and the possible autosomal recessive mode of inheritance of the syndrome.     

Kabuki make-up syndrome associated with West syndrome

A Japanese boy with Kabuki make-up syndrome associated with West syndrome is reported. He developed periodic tonic spasms at 6 months of age while his electro-encephalogram also revealed hypsarrhythmia. Although only a few previously reported cases of Kabuki make-up syndrome have been associated with epilepsy, it is likely that epileptic seizures are another primary feature of Kabuki make-up syndrome.     

DNA-based diagnosis of Angelman syndrome and Prader-Willi syndrome

An endoscopically assisted technique for internally dividing the palmar or plantar annular ligament was developed in six cadaver limb specimens and two anesthetized horses. Under arthroscopic view, a slotted cannula was inserted into the digital sheath through a stab wound proximal to the annular ligament and advanced through the fetlock canal superficial to the flexor tendons with the slot oriented toward the fibers of the annular ligament. Division of the annular ligament by 90-degree tipped open and guarded blades was observed and verified by direct arthroscopic view. At necropsy, complete division of the annular ligament without iatrogenic damage to the neurovascular structures was confirmed by dissection. Annular ligament division was performed in seven horses with complex tenosynovitis conditions. Tenoscopic examination and removal of tendon and digital sheath adhesions, masses, and bands was followed by endoscopically assisted annular ligament transection. At follow-up, five horses were sound athletes without recurrent digital sheath problems, one horse had residual lameness, and one horse was still convalescing.     

Neuroleptic malignant syndrome in the acquired immunodeficiency syndrome

Patients infected by the human immunodeficiency virus are predisposed to many infectious and noninfectious complications and often receive a variety of drugs. Furthermore, they seem to have a particular susceptibility to idiosyncratic adverse drug reactions. It is therefore surprising that only a few cases of the neuroleptic malignant syndrome have been described in patients with the acquired immunodeficiency syndrome. A high index of suspicion is required to diagnose the neuroleptic malignant syndrome in these patients, as its usual manifestations, including fever and altered consciousness, are frequently attributed to an underlying infection.     

Cast syndrome: the superior mesenteric artery syndrome

Cast syndrome, clinically known as superior mesenteric artery syndrome (SMAS), is gastric dilatation with partial or complete obstruction of the duodenum. Although rare, it is most frequently seen in orthopaedic patients who have had spinal surgery or who are in hip spica or body casts. Obstruction occurs when there is compression of the duodenum between the superior mesenteric artery anteriorly and the aorta and spinal column posteriorly. Obstruction can occur within days of surgery or casting or may not develop for several weeks. Treatment for SMAS varies from conservative nonoperative to operative procedures. Complications can be severe if symptoms are not quickly recognized and treatment instituted in a timely manner.     

The naevoid basal-cell carcinoma syndrome (Gorlin syndrome) is a chromosomal instability syndrome

We report the establishment and preliminary characterization of a stable steroidogenic granulosa cell line, JC-410. This cell line was obtained by spontaneous immortalization of a primary culture of porcine granulosa cells. Cultured JC-410 cells produced less progesterone than granulosa cells in primary culture. Progesterone synthesis by JC-410 cells was approximately 10% and 1% of the amount produced by granulosa cells from small and medium sized follicles, respectively. Although FSH and LH did not change progesterone levels in cultured JC-410 cells, forskolin and cholera toxin induced a 2.6- and 2.75-fold increase, respectively, versus control. The JC-410 cells responded to 0.1, 1 and 5 mM cAMP with an increase in progesterone synthesis of 2.5-, 28- and 49-fold versus control, respectively, after a 24 h incubation. No detectable levels of estradiol-17beta were found in JC-410 cells after 48 h in culture. However, addition of 0.01, 0.1 and 1 microM androstenedione elevated the levels of estradiol-17beta to 0.028, 0.3 and 1.21 pg/microg protein, respectively. The level of expression of 3betaHSD, aromatase and P450scc genes in JC-410 cells is of similar magnitude to the level of expression in granulosa cells in primary culture. The JC410 cells have been maintained in culture for more than one year during which their population doubled over 100 times. We conclude that JC-410 is a stable cell line that lost responsiveness to the gonadotropins during the process of immortalization, but retained its steroid biosynthetic capability and the expression of key steroidogenic genes. These characteristics may reflect features of cells arrested in an early stage of granulosa cell differentiation.     

Gardner syndrome

The observation of Gardner's syndrome case, in a six year old girl, referred to the hospital for seizures, provides the Authors with the opportunity of reviewing that important subject of the medical and surgical clinical pathology. The diagnostic features and differential diagnosis are described. The current criteria for diagnosis and surveillance of the affected or at risk subjects are outlined. Today the molecular, and, thereafter, the prenatal, neonatal and preclinical diagnosis of the disease, is possible.     

Alport's syndrome

Alport's syndrome (AS) is a progressive glomerulonephritis which is associated with high tone sensorineural deafness and characteristic eye signs. It accounts for 0.6% of all patients who start renal replacement therapy in Europe, and is most commonly inherited as an X linked disorder with a gene frequency of 1 in 5000. During the last six years several type IV collagen genes have been implicated in the aetiology of AS, and mutation detection studies are enabling genotype/phenotype correlations to be made, as well as facilitating carrier detection and prenatal diagnosis.     

Haglund's syndrome

Haglund's syndrome is a painful condition of the heel caused by mechanically induced inflammation of the retrocalcaneal bursa, supracalcaneal bursa, and Achilles tendon. Surgical management has included calcaneal osteotomy, but results have been unpredictable because of the inability to measure accurately bone removal. A method was devised in this study to accurately determine radiographically the amount of bone removal necessary. Sixteen heels in 13 patients underwent surgery after failing 21 months of conservative treatment. The desired osteotomy angle (preop x-rays) was compared to the actual angle obtained at surgery. A patient questionnaire, developed by the Outcome Study Committee of the AOFAS, was used to assess results. There were 13 good results and 3 failures. The average actual angle of the good results was 49 degrees and that of the poor results was 61 degrees. These results were statistically significant to a p = .0012. The average score obtained by the good results was 87 points, while that of the failures was 25 points. Follow-up was 42 months. The authors recommend that the osteotomy be made in such a way as to remove not only the superolateral deformity, but also to decompress the retrocalcaneal bursa and to remove the calcaneal step. In order to do so, an osteotomy angle of 49 degrees should be achieved.