Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.

OBJECTIVE: To report clinical, morphologic, and immunohistochemical studies on autosomal dominant, clinically nonprogressive, and not previously described progressive forms of hyaline body (HB) myopathy (HBM) in a Saudi Arabian kindred. RESULTS: Muscle biopsies from four patients showed HB in type 1 fibers; they were positive for ATPase at pH 4.3/4.6 and for heavy chain slow myosin (HCSM); some HB were HCSM negative. HB were nonreactive for alphaB-crystallin, ubiquitin, tropomyosin, actins, desmin, and components of sarcolemma. Ultrastructurally, HB were granular and filamentous or amorphous, often with fragments of sarcomeres, and surrounded by a zone of sarcomeric disorganization. All biopsies showed "myopathic" changes, angulated neurogenic fibers, and fiber type grouping. There was no correlation between HB and course of disease; the progressive cases displayed more severe myopathic features. CONCLUSIONS: Formation of hyaline bodies in hyaline body myopathy is associated with either myolysis or defective incorporation of heavy chain slow myosin into the cytoskeleton. Hyaline bodies very likely contain additional unidentified proteins. Neurogenic factors are also involved in the hyaline body myopathy pathogenesis.

Laryngotracheoplasty using the Medpor implant: an animal model.

OBJECTIVE: The Medpor implant (Porex Surgical, College Park, GA) is a porous polyethylene that has been used safely in areas in the head and neck. Medpor allows the in-growth of capillaries and soft tissue and reduces the risk of infection and extrusion. This study was undertaken to evaluate the use of the Medpor implant in laryngotracheal reconstruction and to compare epithelialization of the trachea following two different methods at various intervals. METHODS: Eight beagles were divided into two groups. The first group underwent laryngotracheoplasty using the Medpor implant only, whereas the second group had the Medpor implant lined with a strap muscle flap. One animal from each group was sacrificed at 5-, 7-, 9-, and 12-month intervals. The degree of stenosis, inflammation, and epithelialization were compared. RESULTS: The Medpor implant can safely be used to reconstruct the trachea in this animal model. There is less stenosis and better epithelialization when the Medpor implant is lined with a strap muscle flap. CONCLUSION: The Medpor implant can safely be used in laryngotracheal reconstruction in beagles.

Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).

The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement. When about 10 years of age, heavily calcified aortic and mitral valves required surgery. Fibroblast beta-glucocerebrosidase activity was markedly reduced. Genotype analysis indicated that the two patients who were tested were homozygous for the D409H (1342G-->C) mutation. Relating this rare phenotype of Gaucher disease to D409H mutation will facilitate management of the disease and counseling of families.

Pseudoxanthoma elasticum of the internal mammary artery.

A case of pseudoxanthoma elasticum of the left internal mammary artery from a 61-year-old male who underwent coronary artery bypass grafting is reported. Intraoperative evaluation of the left internal mammary artery revealed partial stenosis. Histologically, the stenotic portion showed pseudoxanthoma elasticum. This represents the first reported case of pseudoxanthoma elasticum in the internal mammary artery.

Non-neoplastic cystic lesions of the sellar region presentation, diagnosis and management of eight cases and review of the literature.

The differential diagnosis of a sellar lesion includes pituitary adenoma, cranio-pharyngioma, tumour cyst, benign cyst, and other less common lesions such as aneurysm, squamous cell carcinoma and metastases. Pure cystic lesions within the sella turcica are not uncommon and may appear clinically and radiologically as pituitary adenoma. Intrasellar cysts are broadly classified as neoplastic or non-neoplastic; the latter may be primary lesions of the pituitary fossa or they may arise from the parasellar region and invade into the sella. The lesions occupy space and may cause disturbance of pituitary function; if they extend into the suprasellar region they can affect visual fields and acuity. Non-neoplastic cystic lesions usually appear well defined radiologically and have distinct pathological features. Modern imaging modalities, such as computed axial tomography and magnetic resonance imaging, are important complementary tools of investigation for reaching a differential diagnosis, and for surgical planning. Most non-neoplastic sellar cysts can be approached through the trans-sphenoidal route, but large lesions with suprasellar extension may require transcranial surgery. We report the presentation and management of eight cases (four males, four females, all adult) of non-neoplastic cyst involving the sella turcica and the parasellar region. Investigations included computed tomography scan of the head for all and magnetic resonance imaging for six (75%) patients. Work-up included endocrinological and opthalmological evaluations. All presented with headache; six (75%) had visual acuity change, two (25%) had evidence of visual field defects, four (50%) had optic atrophy on fundoscopy, three (37.5%) had endocrine symptoms and hormone reduction was found in four (50%).

Neurosurgical aspects of sphenoid sinus mucocele.

The aetiological spectrum of sphenoid sinus mucocele includes congenital anomaly, trauma, infection, allergy and surgery of the sphenoid sinus. Enlargement of the mucocele, even with a short history, can result in progressive expansion of the sinus and extension of the lesion into the pituitary fossa, the suprasellar region, nasopharynx, orbits, clivus or ethmoid air cells. It is a benign cystic lesion with an excellent prognosis when treated appropriately. Generally, these lesions are managed by an ear, nose and throat surgeon, but when there is extension into the sellar and parasellar (especially suprasellar) regions they are managed by the neurological surgeon. Sphenoid sinus mucocele should be considered in the differential diagnosis when there is suspicion of a cystic lesion in these regions. Three cases of large sphenoid sinus mucocele are presented, with discussion on their neurosurgical management and a review of the literature.

Neuromuscular and microvascular changes associated with chronic administration of an extract of Teucrium stocksianum in mice.

This work examines the effect on the weights of vital body organs, on blood biochemical variables, on neuromuscular coordination and on cerebral microcirculation of aqueous extracts of Teucrium stocksianum, given to mice in drinking water at concentrations of 2 and 4% for 56 days. The treatment caused progressive impairment of neuromuscular coordination, as evidenced by the time spent on the rota-rod. After photochemical challenge, the time for first observable platelet aggregation in arterioles was shorter than for the control group by 22 and 45% in the 2 and 4% T. stocksianum-treated groups, respectively. Platelet aggregation on the venular side was not affected by the treatment nor were microvascular diameters. Treatment with the plant extract produced no statistically significant effect on the plasma biochemical variables that are considered indices of liver and kidney function. Histologically, brains obtained from mice treated with T. stocksianum showed loss of cerebellar Purkinje cells. Although it is likely that the accelerated platelet aggregation might have contributed to an ischaemic effect which could, at least in part, have caused the cytotoxicological changes, this does not exclude the possibility of a direct cytotoxicological effect of the plant extract. Further pharmacological and toxicological investigations on Teucrium species seem warranted.

Clinicopathological assessment of gastric biopsy samples of patients with Helicobacter pylori infection--metronidazole resistance and compliance problems in the United Arab Emirates.

The significance of Helicobacter pylori (HP) infection was assessed prospectively in forty-two patients with dyspepsia using histological, bacteriological and biopsy urease techniques. Thirty-eight patients (90.5%) were positive for HP infection and were treated with bismuth subcitrate (De Nol), tinidazole and doxycycline. HP was present in the antrum, corpus, fundus, duodenum and gastric juice in 36, 26, 23, 2 and 2 patients respectively (p < 0.01, X2 test). Histological assessment yielded more positive identifications of HP than the urease test (36 vs 28 positive cases, p < 0.01, McNemar's X2 test), while histology and bacteriology were virtually identical (38 vs 37 of 41 pairs, p > 0.5, X2 test). There was a good correlation between bacterial and polymorphonuclear leucocyte (PMNL) counts per high power field (r = 0.8; p < 0.001; n = 34 pairs). There was resistance to metronidazole in 10 out of 16 isolates, but no resistance was recorded against tetracycline (p < 0.001, X2 test). Among the sixteen patients who attended follow-up endoscopy, there was clinical improvement and no evidence of HP in 5 individuals (31.25%). One patient had amelioration of his symptoms, 5 experienced no change and in 5 their symptoms became worse. Metronidazole resistance may be one of the important factors in the United Arab Emirates and elsewhere.