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Biomedical subjects

B A Bharucha

Publications and source records attributed to B A Bharucha.

At least 19 recordsLinked to original sources
PubMed1996

Supernumerary limbs: a case report of a rare congenital anomaly.

We report a case of an 18-month-old female who presented with three supernumerary upper limbs of varying lengths on the right side. Each limb had a proximal, middle, and distal segment, and an intercalated elbow and wrist joint. A single digit was present in the superior limb, three digits in the middle limb, and two digits in the caudal-most limb. Right plagiocephaly, congenital torticollis, scoliosis involving the upper and mid thoracic region, and a hypoplastic right pectoralis major were the other abnormal features noted. Radiography showed two scapulae, humerus, a single forearm bone in each limb, and rudimentary metacarpals and phalanges. Limb duplication may rarely be encountered in parasitic conjoined twins. The role of mutagens, drugs, cellular contributions, and morphogens in the growth and differentiation of limbs has been studied in animals. It is rather difficult to deduce the time of action of the factors responsible for such a malformation.

Arm↗
PubMed1996

Clinical and enzyme studies in Gaucher disease.

OBJECTIVE: To study the clinical and biochemical spectrum of Gaucher disease. DESIGN: Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING: Hospital-based. SUBJECTS: Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay. RESULTS: The enzyme beta-glucosidase was 0.65 nmol/h/mg of protein or less in all the cases in Delhi, and 2.5 nmol/h/mg of protein or less in Bombay. All cases except one belonged to type 1 (hepatosplenomegaly), while one case was of type 2 (neuronopathic). Prenatal diagnosis was carried out in one family and the fetus was found to be affected. CONCLUSION: In children with hepatosplenomegaly and increased acid phosphatase, assay of beta-glucosidase enzyme confirms the diagnosis of Gaucher disease. Diagnosis of the disease is important because enzyme replacement therapy is available and prenatal diagnosis is possible.

Child↗
PubMed1995

Klippel-Trenaunay-Weber syndrome with hydrocephalus: an unusual association.

Macrocephaly is an associated finding with Klippel-Trenaunay-Weber syndrome, the cause of which remains to be determined. Association of this syndrome with hydrocephalus due to aqueductal stenosis has not been reported previously in world literature and is presented in this clinical brief.

Cerebral Aqueduct↗
PubMed1995

Lissencephaly.

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Abnormalities, Multiple↗
PubMed1994

Evaluation of short neck: new neck length percentiles and linear correlations with height and sitting height.

Qualitative impressions of neck length are often used as aids to dysmorphology in syndromes like Turner, Noonan, Klippel-Feil and in craniovertebral anomalies, some of which have serious neurological implications. There are no national or international standards for neck length. The present study attempted to create standards and percentile charts for Indian children and compute age-independent correlations of neck length with linear measurements such as standing and sitting height. A total of 2724 children of both sexes between 3 and 15 years, whose heights and weights conformed to ICMR standards were inducted. Neck length was measured by a modified two-point discriminator between two fixed bony points-inion and spinous process of C7 with the head held in neutral position. Percentiles (5th-95th) were constructed for both sexes. Growth was rapid from 3 to 6 years. Neck length formed a mean of 12.7 +/- 4.58% of height and 20.1 +/- 6.73% of sitting height. Age independent linear regression equations: Neck length = 10 + (0.035 x height) and Neck length = 9.65 + (0.07 x sitting height) were highly significant (p < 0.001). Neck length relationships of 30 randomly selected normal children clustered around the regression lines and 16 with genetic syndromes fell below the regression lines.

Adolescent↗
PubMed1994

Joubert syndrome.

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Cerebellar Ataxia↗
PubMed1990

Neonatal osteomyelitis and septic arthritis.

The records of seventeen neonates (13 males and 4 females) with osteomyelitis and septic arthritis, who were admitted over a 3 year period, were reviewed. Neither prematurity nor low birth weight seemed to be a predisposing factor. The majority of the neonates (88.2%) had some antecedent illness or were subjected to certain procedures in the neonatal period. Paucity of movement of limb, fever and local swelling of the joint were the most frequent presenting symptoms. Deep soft tissue swelling was the frequently noted radiographic change (58.8%). Bone scintigraphy was abnormal in 7 out of 11 cases. Of the 21 sites involved, femur and humerus accounted for 76.1% of cases. Four of seventeen neonates had multiple bone involvement. Arthritis was present in fifteen neonates. Of the organisms isolated, Staphylococcus aureus was the commonest.

Arthritis, Infectious↗