The Kenya orthopaedic project: surgical outcomes of a travelling multidisciplinary team.

We report the results of six trauma and orthopaedic projects to Kenya in the last three years. The aims are to deliver both a trauma service and teaching within two hospitals; one a district hospital near Mount Kenya in Nanyuki, the other the largest public hospital in Kenya in Mombasa. The Kenya Orthopaedic Project team consists of a wide range of multidisciplinary professionals that allows the experience to be shared across those specialties. A follow-up clinic is held three months after each mission to review the patients. To our knowledge there are no reported outcomes in the literature for similar projects. A total of 211 operations have been performed and 400 patients seen during the projects. Most cases were fractures of the lower limb; we have been able to follow up 163 patients (77%) who underwent surgical treatment. We reflect on the results so far and discuss potential improvements for future missions.

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

BACKGROUND: Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare Mendelian disorder affecting ectodermal tissues. The disease is primarily caused by inactivation of any one of three genes, namely ectodysplasin A1 (EDA-A1), which encodes a ligand belonging to the tumour necrosis factor (TNF) superfamily; ectodysplasin A receptor (EDAR), encoding the EDA-A1 receptor and ectodysplasin A receptor-associated death domain (EDARADD), encoding an adaptor protein. X-linked recessive (EDA-A1), the predominant form of HED, as well as autosomal recessive and dominant (EDAR and EDARADD) inheritance patterns have been identified in affected families. OBJECTIVES: To determine the common genes causing HED in India. METHODS: We performed mutation analysis on 26 HED families from India (including 30 patients). In addition, we carried out sequence and structural analysis of missense/nonsense and insertion/deletion mutations. RESULTS: Among the 26 families analysed, disease-causing EDAR mutations were identified in 12 (46%) while EDA-A1 mutations were detected in 11 (42%). Four novel mutations in EDAR and five in EDA-A1 were identified. More importantly, a possible founder EDAR mutation, namely c.1144G>A, was identified in five independent families, thus accounting for about one-fifth of affected families in whom mutation was detected. A majority of EDA-A1 mutations localized to the TNF-like domain while the location of EDAR mutations was more widespread. CONCLUSIONS: This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED.

Rare causes of voice hoarseness: a case report.

We report two contrasting and rare cases of voice hoarseness in young patients of tubercular aetiology. First case report is of isolated tubercular recurrent laryngeal nerve palsy in a patient who presented with hoarseness of voice. Chest radiograph showed a left hilar prominence and bronchial washings isolated acid-fast bacilli. Hoarseness of voice as an initial symptom due to isolated vocal cord palsy with no morphological lesions in the larynx and without obvious parenchymal infiltration often poses a diagnostic dilemma. Second case report highlights the possibilities of tuberculosis of the vocal cords mimicking tumour of the larynx. This patient had an ulcerative growth involving the vocal cord which was initially mistaken for malignancy. Patient also had concomitant miliary shadowing in the lungs and laryngoscopic biopsy revealed the growth to be tuberculosis. Early diagnosis and intervention with antitubercular treatment is vital as it results in complete recovery with reversal of vocal hoarseness.

Utility of bronchoalveolar lavage in the diagnosis of pulmonary infections in immunosuppressed patients.

AIM: To evaluate the utility of bronchoalveolar lavage (BAL) in immunocompromised patients. MATERIAL AND METHODS: We studied BAL cytology and microbiological culture in 16 kidney transplant recipients (Group A), 14 dialysis patients (Group B) and eight HIV positive patients (Group C) suspected of having pulmonary infections. A group of 21 individuals without pulmonary diseases were studied as controls. RESULTS: A comparison of the cytological profile in controls and study groups showed that percentages of lymphocytes and neutrophils were significantly increased in all three patient groups as compared to controls, BAL bacterial cultures were positive in 4, 3 and 4 cases of Group A, B and C, respectively. Direct examination of BAL cytosmears helped in detecting cytomegalovirus inclusions, acid fast bacilli and Pneumocystis carinii in 3, 2 and 5 cases of Group A, B and C, respectively though microbial cultures were negative. The sensitivity of BAL cytology was found to be 76.3%, whereas that of microbial culture was only 31.5%. The diagnostic yield of BAL was 68.75%, 71.42% and 100% in the Groups A, B and C, respectively, while it was 76% when all three groups were considered together. BAL cytology yielded the diagnosis in 47.36% of cases, a combination of BAL cytology and culture in 23.68% and culture alone in 5.3% of cases. CONCLUSIONS: BAL is useful relatively non-invasive investigative tool in the rapid diagnosis of infections in immunocompromised patients. BAL cytology was found to be more useful than microbial cultures.

Enteroviral encephalitis leading to a locked-in state.

Millions of children are infected by enteroviruses each year, usually exhibiting only mild symptoms. Although enteroviruses are a common cause of community-acquired aseptic meningitis, enteroviral meningitis usually has a benign course. We describe a 14-year-old patient with enteroviral meningoencephalitis diagnosed by polymerase chain reaction. Her level of consciousness declined rapidly after hospital admission and resulted in a locked-in state. Although she experienced slow neurologic improvement, residual neurologic deficits remain. Although there is a general awareness of the characteristics of enteroviralencephalitis, this case report is significant in presenting a case of unusual severity and sequelae. To our knowledge, this is the first published report of an enterovirus encephalitis leading to a locked-in-state.

Post-traumatic left ventricular false aneurysm.

Most false aneurysms of the heart represent contained ventricular free wall ruptures after myocardial infarction. Post-traumatic aneurysms also may follow penetrating or non-penetrating trauma to the chest. Regardless of the origin of the false aneurysm there is a propensity for aneurysm rupture. We report a patient who developed a false aneurysm of her left ventricle that developed post-motor vehicle accident. Her orthopedic problems were the clinical problems identified and after a hospital admission of 10 days she was discharged home. Four weeks later she died suddenly from anterior left ventricle false aneurysm rupture and tamponaide. Patients with significant chest wall trauma should be assessed for cardiac pathology prior to discharge. Presentation may be delayed and be overshadowed by more evident pathology. Trauma-related aneurysms may cause sudden death, and this may occur some later time after the trauma. Attributing the cause of death to the trauma, which may be remote, is important for the forensic investigator to remember.

Olfactory neuroblastoma metastatic to the breast.

Olfactory neuroblastoma (Esthesioneuroblastoma) is a rare malignant tumour arising from olfactory epithelium. It has a predilection for cervical lymph node metastasis and also has potential for distant metastasis to unusual sites like scalp, face, aorta, spleen, liver, adrenal gland and ovary. We report here a rare case of olfactory neuroblastoma in an adolescent girl with metastatic deposits in the breast. A poor prognosis due to rapidly progressive disseminated disease was observed. The relevant literature regarding metastatic olfactory neuroblastoma and metastasis in the breast from non-mammary malignant neoplasms is reviewed.

Olfactory epileptic auras.

BACKGROUND: Olfactory epileptic auras are rare, constituting about 0.9% of all auras, and are typically described as unpleasant. They have usually been associated with tumors, but in some recent studies they have not. METHODS: We identified 13 patients (7 male, 6 female) with olfactory epileptic auras from 1423 patients with partial epilepsy evaluated for intractable seizures between 1991 and 1996. All had routine EEGs and MRI. Twelve underwent prolonged video-EEG monitoring. RESULTS: Olfactory sensations were of various types but unpleasant in only seven. Auras evolved to complex partial seizures (automotor, hypermotor, or dialeptic seizures) in 12 patients, with further evolution to generalized tonic-clonic seizures in three and aphasic seizures in one patient. The EEG focus was localized to the mesial temporal region in all. Ten patients had a mesial temporal tumor; in one patient, it extended to the superior temporal gyrus, and in another, the frontal lobe. The tumor involved only the amygdala in two patients and both amygdala and hippocampus in six; none had hippocampal involvement alone. Surgery was performed in nine patients. All except one with partial tumor resection had a seizure-free outcome. This patient also became seizure-free after repeat surgery to remove residual tumor tissue in the amygdala. CONCLUSIONS: Olfactory auras are not necessarily unpleasant. The amygdala is the most likely symptomatogenic zone of olfactory auras. Tumors are the commonest etiology; mesial temporal sclerosis is a relatively rare cause.

Compression of anomalous circumflex coronary artery by a prosthetic valve ring.

Anomalous origin of the circumflex coronary artery from the right aortic sinus, with a retroaortic course, is usually without consequence. We report a patient who underwent aortic valve replacement for bicuspid aortic valve. The prosthesis sewing ring distorted the circumflex, producing myocardial infarcts and sudden death during exercise.

Male reproductive function in uraemia: efficacy of haemodialysis and renal transplantation.

OBJECTIVE: To evaluate the impact of maintenance haemodialysis and live-related renal transplantation on the reproductive potential of men with end-stage renal disease. PATIENTS AND METHODS: The plasma levels of testosterone, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) were determined, and semen analysed, in 19 men (22-41 years old) with advanced uraemia after 6 months of dialysis and again 6 months after renal transplantation. Eight patients who had azoospermia or severe oligospermia underwent testicular biopsy after 6 months of dialysis and again 6 months after the transplant. RESULTS: Following dialysis, levels of testosterone were low in 17 patients and levels of LH and FSH were elevated in 15 and eight patients, respectively. Four patients each had azoospermia and severe oligospermia. The testicular tissue was hypospematogenic in three patients, showed late-maturation arrest in four and germ cell aplasia in one. After renal transplantation, testosterone and LH levels returned to normal in 15 and 13 patients, respectively, while FSH levels became normal in only two patients. The recovery of testosterone and LH levels after transplantation was statistically significant. Semen quality improved in 13 patients, with the improvement in sperm density and motility being statistically significant. Testicular histology revealed normal spermatogenesis in four patients, while three continued to show late-maturation arrest. The wives of five of the transplanted patients conceived. CONCLUSIONS: The impairment of testicular function seen in advanced uraemia is not reversible by maintenance haemodialysis. In contrast, after successful transplantation, steroidogenic function became almost normal while spermatogenic function showed a striking if incomplete recovery.

Effect of low dose recombinant human omega erythropoietin (rHuEPO) on anaemia in patients on hemodialysis.

The effect of low dose rHuEPO therapy in ESRD patients on regular dialysis therapy was assessed in a prospective study in 22 patients. Routine hematological and biochemical tests, bone marrow aspiration, serum iron and ferritin studies were performed. The quality of life was also assessed. rHuEPO was administered in a dose of 25 units/kg i.v. post dialysis 3 times a week for 8 weeks, followed by 36 units/kg for further 4 weeks. Significant rise (p = 0.0001) in Hb & PCV with rise in reticulocyte count (0.016) was noted. Serum ferritin was a better index of iron status of the body. Significantly improved anemia and quality of life of ESRD patients on hemodialysis was seen in 95% of the patients.

Left ventricular function in end stage renal disease--non-invasive assessment in patients on maintenance hemodialysis.

Non-invasive assessment of left ventricular function was performed by echocardiography and radionuclide ventriculography in 17 end-stage renal disease patients on maintenance hemodialysis. Patients with diabetes mellitus, ischemic heart disease and pericardial or valvular heart disease were excluded from the study. Parameters studied on echocardiography were left ventricular internal diameter in diastole (LVIDd), left atrial diameter (LAD), Aortic root diameter (ARD), Left ventricular posterior wall thickness in systole (LVPWs), End diastolic volume (EDV), End Systolic volume (ESV), fractional shortening percentage (FS%) and ejection fraction (EF). Parameters studied on radionuclide ventriculography were Peak ejection rate (PER), Peak filling rate (PFR) and Ejection fraction (EF). Significantly abnormal values for echocardiographic parameters LVIDd, LVPWs, EDV, ESV and FS% were found. On evaluation by MUGA scans, it was observed that the PER was significantly decreased while the PFR and EF did not change significantly.

Dyslipoproteinemia in renal transplantation.

Twenty-seven live related donor renal allograft recipients were evaluated for dyslipoproteinemia. Twenty-two patients received dual immunosuppression with prednisolone and azathioprine. Five patients received cyclosporin as well. Total cholesterol (Tch), triglycerides (TG), HDL cholesterol (HDLch), LDL cholesterol (LDLch) and VLDL cholesterol (VLDLch) levels were estimated. Fifteen (56%) patients showed significant lipoprotein abnormalities. Renal allograft recipients showed significantly lower levels of Tch (p < 0.05) and LDLch (p < 0.05) and higher levels of TG (p < 0.005) and HDLch (p < 0.05). Diet and beta blockers did not influence lipoprotein levels. A significant negative correlation was noted between post-transplant duration and Tch, TG and VLDLch levels. Increased TG levels were associated with increase in weight and higher daily prednisolone dosage at the time of evaluation. The study confirms the existence of dyslipoproteinemia in renal allograft recipients.