Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia.

Cowden syndrome or multiple hamartoma syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origin. A 45-year-old man presented to us with a history of dural arteriovenous fistula and intracerebral bleed in the past with gradually progressive difficulty in walking. Magnetic resonance imaging (MRI) of the brain showed a heterogeneous lesion in the cerebellum which was diagnosed as adult Lhermitte-Duclos disease which is considered a component of Cowden syndrome. On examination we found florid skin and mucosal manifestations of Cowden syndrome. A family history of thyroid malignancy was also present. Using the Cleveland Clinic web calculator, the patient had an 82% chance of having a phosphatase and tensin homologue (PTEN) mutation.

Invasive mycosis due to species of Blastobotrys in immunocompromised patients with reduced susceptibility to antifungals.

Cases of invasive mycosis due to Blastobotrys serpentis and B. proliferans identified by sequencing in a preterm patient and a rhabdomyosarcoma patient, respectively, are reported. Both species revealed elevated fluconazole and echinocandin MICs by the CLSI broth microdilution method. Additionally, B. serpentis exhibited high amphotericin B MICs, thus posing serious therapeutic challenges.

Cochlear implant programming: a global survey on the state of the art.

The programming of CIs is essential for good performance. However, no Good Clinical Practice guidelines exist. This paper reports on the results of an inventory of the current practice worldwide. A questionnaire was distributed to 47 CI centers. They follow 47600 recipients in 17 countries and 5 continents. The results were discussed during a debate. Sixty-two percent of the results were verified through individual interviews during the following months. Most centers (72%) participated in a cross-sectional study logging 5 consecutive fitting sessions in 5 different recipients. Data indicate that general practice starts with a single switch-on session, followed by three monthly sessions, three quarterly sessions, and then annual sessions, all containing one hour of programming and testing. The main focus lies on setting maximum and, to a lesser extent, minimum current levels per electrode. These levels are often determined on a few electrodes and then extrapolated. They are mainly based on subjective loudness perception by the CI user and, to a lesser extent, on pure tone and speech audiometry. Objective measures play a small role as indication of the global MAP profile. Other MAP parameters are rarely modified. Measurable targets are only defined for pure tone audiometry. Huge variation exists between centers on all aspects of the fitting practice.

Hypertension as a Risk Factor for Haemorrhagic Stroke in Females.

AIM: To study the effect of hypertension as a risk factor for haemorrhagic stroke in women compared to men. METHOD: Confirmed cases of haemorrhagic stroke by Computed Tomography scan were included in this study. The participants underwent detailed clinical examination based on preset questionnaire. Relevant laboratory investigations were done in this group. 100 consecutive cases were studied comparing the baseline characteristics with male patients admitted with haemorrhagic stroke. OBSERVATIONS: Among all the risk factors studied hypertension was the single most important risk factor causing intracerebral bleed. Forty seven point four percentage (47.4%) of females were hypertensive as against 61% in males. Blood pressure recording of females showed lower systolic and diastolic measurement compared to males and the difference was statistically significant with a p value of 0.000. Majority of the female patients were overweight with a significant difference in body mass index compared to males. (p value 0.006). CONCLUSION: Hypertension is an important risk factor for intracerebral bleed. Females developed intracerebral bleed at a lower blood pressure measurement compared to males. Females require better control of hypertension than males to prevent intracerebral bleed.

Primary haemophagocytic syndrome in a young girl.

Haemophagocytic syndrome is a life-threatening systemic illness characterized by an uncontrolled inflammatory response. Patients present with fever, hepatosplenomegaly, jaundice and liver dysfunction, neurological manifestations and often pancytopenla. Bone marrow, lymph node, hepatic or splenic biopsy shows macrophages with Ingested blood cells or their precursors. Laboratory markers include elevated triglycerides and ferritin, low fibrinogen with normal or low erythrocyte sedimentation rate (ESR). Familial haemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder. Secondary haemophagocytic syndrome results from infections, malignancy and collagen vascular disorders. We describe a young girl with primary haemophagocytic syndrome.

AIDS associated Kaposi's sarcoma.

Epidemic Kaposi's sarcoma (KS) is the most common malignant neoplasm occuring in HIV patients. Although the prevalence of HIV infection is high in Asian countries, KS is rarely reported. We report a case of fatal KS involving the skin and mucous membranes in a homosexual male.

A study of self-perception and communication success as perceived by adolescents with cochlear implants and their significant others.

OBJECTIVES: The objectives of this prospective, cross-sectional study were to compare self-perception and communication-success ratings of adolescents with cochlear implant (AWCI) and their caregivers (C-AWCI) and to explore associations with age at CI, implant age, and chronological age. METHOD: Fourteen CI centers across India participated. The Think About it Quiz (TAIQ), Self Assessment of Communication-Adolescent (SAC-A), and Significant Other Assessment of Communication-Adolescent (SOAC-A) were translated into five languages. Data were collected from 173 AWCI aged 10;0-19;6 years and an associated caregiver for each participant. RESULTS: On the TAIQ, self-ratings by AWCI were significantly lower than the ratings by C-AWCI. Peer acceptance correlated with athletic competence for both groups. For the SAC-A versus SOAC-A, there was no significant difference between AWCI and C-AWCI ratings. Except for a negative correlation between peer-acceptance and chronological age for caregiver ratings, no other associations were found between any other ratings and age at CI, implant age, and chronological age. CONCLUSIONS: Caregiver judgments of their adolescents with CI were not in equal agreement with self-ratings by the adolescents across various aspects of performance. Caregivers appeared to underestimate the self-perception issues faced by adolescents with CI but had excellent agreement with their adolescents' self-rating of communication success. The inclusion of activities to improve children's participation in sports could possibly improve peer acceptance.

A simplified technique of free flap pedicle transfer for reconstruction of defects following head and neck cancer ablation.

Free flaps are being widely used for reconstruction of defects following head and neck cancer ablation. The pedicle of the flap is usually tunneled into the neck wound for anastomosis to the neck vessels. This transfer of the pedicle can be technically difficult to execute and associated with difficulties of torsion and kinking. No effective method has been so far reported to make this procedure easy and safe. A very easy and effective method for the pedicle transfer is described in this report, which has been practiced successfully in our head and neck service in more than 175 free flaps.

Cortical venous thrombosis due to acquired hyperhomocysteinaemia.

A 20-year-old student presented with generalized tonic-clonic seizures and was diagnosed to have cortical venous thrombosis. Her dietary history and the clinical signs of vitamin deficiency prompted further investigations, which detected hyperhomocysteinaemia secondary to vitamin B12 deficiency as a factor contributing to the hypercoagulable state. This case highlights the importance of a balanced diet, as well as the necessity for primordial prevention.

Tuberculosis control in India: Refocus on nutrition.

Many western societies have eliminated tuberculosis years before the advent of potent anti-tuberculous drugs, as a result of the improved standards of living and good nutrition. But even with the availability of powerful anti-tuberculous drugs, India still has a long road ahead to reach the "End TB by 2025" goal. One of the major reason is that tuberculosis control program in India till now have focused primarily on case detection and medical treatment of active tuberculosis. Drug treatment alone does not completely prevent the occurrence of new infections in the community and also contributes to development of drug resistant strains if used improperly or incompletely. Although the treatment of active cases can reduce the period of transmission of disease, a significant amount of transmission to contacts occurs even before they have been diagnosed and treated. Additionally, this approach cannot prevent re-activation to active TB in the vast pool of persons with latent TB infection. Tuberculosis occurs in those with suppressed cell mediated immunity mainly due to poor nutritional status. Improving the nutritional status of the society by several social interventions hand-in-hand with utilizing the available anti-tuberculous drugs is possibly the only effective strategy. Promising programmatic guidance for nutritional support in TB patients have been formulated by the Central TB division of India but it needs a refocusing of TB control strategies towards nutrition at all levels and strong public health actions for effective implementation.

Congenital immunodeficiency disorder.

A 17 year old girl, a 9th standard student with history of recurrent pneumonia and soft tissue "cold abscesses" since neonatal period, presented with fever and cough with yellowish expectoration of 2 months duration. Her clinical and radiological finding along with elevated serum IgE level were consistent with the diagnosis of hyper immunoglobulin E syndrome or Job's syndrome.

An outbreak of Kyasanur forest disease in the Wayanad and Malappuram districts of Kerala, India.

Kyasanur forest disease (KFD) is a zoonotic viral haemorrhagic fever and has been endemic to Karnataka State, India. Outbreaks of KFD were reported in new areas of Wayanad and Malappuram districts of Kerala, India during 2014-2015. Investigation of the outbreaks was carried out in these districts during May 2015. The line-list data of KFD cases available with District Medical Office, Wayanad were analysed. Case investigation was carried out to determine the risk factors associated with the outbreak and possible site of contraction infections. Ticks from the forest floor were collected in areas associated with monkey deaths by flagging method to estimate species abundance. Of 102 confirmed cases of KFD reported in Wayanad, 91% were adults aged >15years. About 43% of the cases were from the areas of Poothady Primary Health Centre (PHC) followed by Chethalayam PHC (22%). Most of the affected individuals belong to Kattunayakan tribe, dependent on forest for their livelihood. Those tribes are engaged in trench digging and fire line works in summer months and hence are at a higher risk. In Malappuram, the Cholanaickan tribe, are under high risk of exposure to infected ticks as they live deep in the forest and trap monkeys for game meat. High abundance of Haemaphysalis spinigera and H. turturis, the established vectors of KFD virus was recorded in all affected areas. Incidence of KFD cases/monkey deaths and high abundance of Haemaphysalis vectors in the forest ranges of Wayanad and Malappuram districts indicate that the area has become receptive for KFD outbreaks. Preventive measures (vaccination of high risk groups) coupled with intensive health education should be carried out prior to transmission season.

Idiopathic hypoparathyroidism presenting as secondary myelofibrosis.

Myelofibrosis occurring both in childhood and adulthood is most commonly idiopathic, followed by neoplastic infiltration of the bone marrow. We are reporting an extremely rare association of idiopathic hypoparathyroidism associated with stable secondary myelofibrosis.

Kozhikode criteria for diagnosing systemic lupus erythematosus as a hematological disorder.

Systemic lupus erythematosus (SLE) is an autoimmune disease in which cells and tissues undergo damage mediated by tissue-binding autoantibodies. At its onset, it may involve one organ alone or more than one organ simultaneously; over a time, additional manifestations due to the involvement of other organs may occur. Our observations have confirmed that hematological manifestations are the commonest initial presentation in SLE. The criteria used till 2012 was the American College of Rheumatology (ACR) criteria, which is only a classification criterion and not really for diagnosis; if we rely on ACR criteria, the diagnosis is often delayed. Time required for satisfying all four of the eleven criteria is variable and prolonged. Moreover, hematological manifestations are underrepresented in the ACR criteria. Based on the clinical observations made on patients evaluated in a tertiary center in North Kerala, an alternate diagnostic criterion named the Kozhikode criteria was proposed, especially for the diagnosis of SLE when it presents with hematological manifestations alone. The present study was an attempt to validate the same and to look for any association of diet and lifestyle with the disease.

PUO due to Langerhans Cell Histiocytosis.

Langerhan Cell Histiocytosis (LCH) is a disorder in which cells with a phenotype similar to that of epidermal langerhans cells cause tissue damage possibly through excessive cytokine production. The clinical spectrum of the disease is wide. We are reporting a case of LCH who presented with prolonged pyrexia and a clinically benign bony swelling of mandible of long duration, which was otherwise ignored as being unrelated. The biopsy from the swelling confirmed the diagnosis of LCH. Another biopsy from lower end of tibia where he had pain also demonstrated typical findings. There was no evidence of other system involvement. There was good remission of the swellings and the symptoms with steroid alone initially but later relapsed and is now on treatment as per LCH III protocol. The case is being reported for its rarity and for the unusual presentation as PUO.

Unusual Case of ALL with Ovarian Relapse.

Patients with acute lymphoblastic leukemia (ALL) can develop relapse in sanctuary sites like brain, ovary or testis even when the bone marrow is in remission. Pelvic recurrence is rarely reported during the follow up of successfully treated ALL in females. We report here a very unusual case of a large pelvic lump which the patient herself could feel, that was probably an ovarian relapse of ALL, successfully treated with re-induction chemotherapy alone and achieved complete remission.

Transfusion-induced changes in the breathing pattern of healthy preterm anemic infants.

In order to evaluate the effects of transfusion on breathing pattern in growing, otherwise healthy, anemic preterm infants, we studied 14 infants whose mean +/- SD birthweight was 1,212 +/- 294 grams, gestational age 29.28 +/- 2.23 weeks and hematocrit 25.86 +/- 2.24%. At a mean postnatal age of 41.35 +/- 19.45 days 12 hour nocturnal (transthoracic impedance) pneumocardiograms were obtained 24 hours prior to and after transfusion with 10 mL/kg of packed red blood cells. Posttransfusion pneumocardiograms revealed significant reduction of periodic breathing, of apnea episodes with 11-15 second duration, of apnea density, and of heart rate. These findings indicate that transfusion with packed red blood cells significantly alters certain cardiorespiratory variables in anemic preterm infants.

Is fetal insulin secretion affected by fetal hypoxia?

Fifty-five pregnant Rhesus isoimmunized women were subjected to fetal blood sampling or fetal blood transfusion on 135 occasions. Glucose and C-peptide concentrations were measured in fetal blood, in addition to the routine investigations for complete blood count, blood gases and lactate concentration, in order to investigate whether fetal insulin secretion was affected by hypoxia from fetal anemia. We found a strong relation between the concentration of C-peptide and gestational age at sampling (r = 0.53, P less than or equal to 0.000001). Multiple regression analysis also demonstrated that glucose (P less than or equal to 0.0051) and lactate (P less than or equal to 0.0003) also affected the concentration of C-peptide. We were unable to find any relation between C-peptide concentrations and blood gas variables. We conclude that fetal insulin secretion, measured as C-peptide concentration in fetal blood, is not affected by hypoxia from anemia as long as hemoglobin concentration remains within the range 2.1-14.8 g/dl).