Mitochondrial dysfunction in autism spectrum disorders: a population-based study

A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medical conditions in a group of 120 children with autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD 9.6mo], male:female ratio 2.9:1). Children were diagnosed using Diagnostic and Statistical Manual of Mental Disorders criteria, the Autism Diagnostic Interview--Revised, and the Childhood Autism Rating Scale; 76% were diagnosed with typical autism and 24% with atypical autism. Cognitive functional level was assessed with the Griffiths scale and the Wechsler Intelligence Scale for Children and was in the normal range in 17%. Epilepsy was present in 19 patients. Plasma lactate levels were measured in 69 patients, and in 14 we found hyperlactacidemia. Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism (5 of 69; 7.2%) and warranting further investigation.     

Epidemiological study of patients with connective tissue diseases in Brazil

To study the prevalence of connective tissue disorders and identify the epidemiological profile of the population from the northern and northeastern regions of Brazil. All patients admitted to the general medical ward at Getulio Vargas Hospital were screened through history and physical examination for the existence of known, suspected or possible connective tissue disorder. A total of 120 patients were enrolled in the study - 61 (50.8%) with systemic lupus erythematosus (SLE), 41 (34.2%) with rheumatoid arthritis (RA), 16 (13.3%) with systemic sclerosis (SS), one (0.8%) with mixed connective tissue disease (MCTD) and one (0.8%) with polymyositis (PM). Women accounted for (104) 86.7% of the participants and (83) 70.9% were non-Caucasians. The mean age was 36.8 years. Alopecia was the most frequent symptom (55/46.6%), followed by other cutaneous lesions (50/42.4%), dyspnea (47/39.8%) and chest pain (39/33.0%). The most frequent rheumatologic disorder encountered in our hospital-based study population was systemic lupus erythematosus, which is contrary to findings of the majority of studies performed in this country.     

Assessment of the nasolabial angle in young Brazilian black subjects with normal occlusion

Black individuals present craniofacial characteristics which differ from those of other races, especially the white race, whose cephalometric analyses are usually considered as the standard in routine orthodontic diagnosis and treatment planning. Further studies are therefore needed to enable more accurate and specific diagnoses for this ethnic group. The present study was conducted in order to assess average values for the nasolabial angle in young Brazilian black individuals with normal occlusion, and to assess the occurence of sexual dimorphism. Thirty-six lateral skull, extraoral radiographs from Brazilian black individuals were selected from the archives of the Scientific Recordings Department, Orthodontics Graduate Program, School of Dentistry of Piracicaba, State University of Campinas (UNICAMP). The patients' ages varied from 10 to 14 years, they presented normal occlusion upon clinical examination, and had not been submitted to orthodontic treatment. The cephalometric landmarks from which the nasolabial angle was obtained and measured were traced by a single researcher. Statistical analysis and evaluation of the results led to the conclusion that the nasolabial angle of young Brazilian black individuals is sharper, i.e., the soft tissue profile is more protruded. The average value for the whole sample was 88.14 degrees +/- 12.52 degrees. The nasolabial angle was statistically smaller among females (p < 0.05), demonstrating the occurrence of sexual dimorphism.     

Masquerade syndrome: sebaceous carcinoma presenting as an unknown primary with pagetoid spread to the nasal cavity

Sebaceous carcinoma of the eyelid is an uncommon tumour with unusual modes of presentation. It can remain occult at the primary site, without producing any mass, masquerading as chronic blepharoconjunctivitis, while setting up metastases in the regional lymph nodes especially in the pre-auricular group. We report here a case that not only masqueraded as chronic blepharoconjunctivitis with nodal metastases from an 'unknown primary' in the neck, but whose tumour spread in a pagetoid manner along the nasolacrimal duct producing a nasal tumour that was believed to be the 'unknown primary'. This case emphasizes the need for ophthalmologists, ENT surgeons and pathologists to keep sebaceous carcinoma in mind while evaluating patients with chronic blepharoconjunctivitis and cervical node metastases from 'unknown primary'. Histological clues for picking up a sebaceous carcinoma at a metastatic site include a tumour with comedo or ductal growth pattern and intracytoplasmic lipid.     

Two unusual lesions in the nasal cavity of infants--a nasal chondromesenchymal hamartoma and an aneurysmal bone cyst like lesion. More closely related than we think?

Benign reparative lesions in the head and neck region in infants are rare and often difficult to classify on histology. Discussed herein are two rare lesions in infants occurring at identical locations in the nasal cavity with striking histologic similarity but different histologic labels. One was a case of nasal chondromesenchymal hamartoma (NCMH) occurring in a 1-year-old child and the other an aneurysmal bone cyst (ABC) like lesion affecting a 4-month infant. Both these lesions were locally destructive and had nearly similar clinical presentation. Both on immunohistochemistry showed myofibroblastic nature and had similar histology except that the ABC like lesion lacked the cartilage component of the former. In view of great similarity in the two lesions, it was thought that the second lesion might also represent a reparative, non-cartilage-containing counterpart of the former.     

Lateral ankle sprain: isokinetic test reliability and comparison between invertors and evertors

OBJECTIVE: Evaluate reliability of isokinetic tests for inversion and eversion in individuals with recurrent lateral ankle sprain and compare inversion to eversion muscle performance in the same ankles. DESIGN: Reliability was evaluated by comparing the results of two ankle inversion/eversion isokinetic tests. Inversion and eversion were compared with the results presented by the tests. BACKGROUND: Previous studies showed reliable isokinetic tests for ankles with no sprain history. It is unknown if such tests can also be performed in lateral sprained ankles. It is unclear whether there is difference between invertors and evertors in these ankles. METHODS: Eleven men with recurrent ankle lateral sprain in one limb were tested using an isokinetic dynamometer. The tests consisted of 5 cycles of maximal contraction in 30 degrees /s and 120 degrees /s. Both injured and noninjured ankles were tested. Peak torque was recorded for analysis. RESULTS: The tests are reliable and intraclass coefficient correlation varied from 0.71 to 0.95. Invertors generated higher peak torques than evertors (P = 0.03) when injured ankles were tested at 120 degrees /s. CONCLUSIONS: Isokinetic inversion/eversion tests showed to be reliable. A decrease in peak torques can be seen during higher velocity tests. The only difference between invertors and evertors was seen when injured ankles were tested at 120 degrees /s. In this case invertors showed higher peak torques.