Association of the CDH13 gene variant rs9940180 with schizophrenia risk in North Indian population.

BACKGROUND AND OBJECTIVES: Cadherin13 (CDH13) is an uncommon cadherin family member, lacking a transmembrane domain, and attaches via a glycosylphosphatidylinositol anchor to the peripheral surface of the cell membrane. CDH13 plays an important role in the development and maintenance of axonal growth cones, synapse morphogenesis, and the embryonic neural tube. Cadherin superfamily genes have been associated with many neuropsychiatric diseases. Studies have shown the Cadherin13 gene as a risk locus for Schizophrenia (SCZ). In this study, we investigated CDH13 gene variants rs7204454 in the promotor region and rs9940180 in the intronic region of the gene with susceptibility to SCZ risk in the population of Jammu region of J&K, India. METHODS: The genotyping was performed using TaqMan assay, where 560 individuals, comprising 164 patients and 396 healthy controls, were genotyped. RESULTS: The result of the study suggested rs9940180 was significantly found to be associated with Schizophrenia and the "C" allele of rs9940180 was associated with increased risk for SCZ (P = 0.03817; OR = 1.527; 95% CI, 1.022-2.28) whereas the other variant rs7204454 of CDH13 gene did not show significant association with schizophrenia risk with P = 0.8827, OR = 0.582-1.33 at 95% CI. CONCLUSION: This is the first report suggesting a significant association of polymorphism at CDH13 rs9940180 with Schizophrenia in the Dogra population group of the Jammu region. The current study offers a piece of important information on the genetic reason for CDH13 in the Jammu population of J&K. Also, it supports the GWAS findings on the correlation of CDH13 in schizophrenia.

Improvement in Quality of Life of Postmenopausal Women with Depression with commonly used Antidepressants (Escitalopram vs. Desvenlafaxine): A Randomized Controlled Trial in a Tertiary Care Teaching Hospital of North India.

Introduction: The postmenopausal symptoms affect the quality of life (QoL) of women. Depression and anxiety too have been associated with diminished QoL. It is known that antidepressants escitalopram and desvenlafaxine are effective in the treatment of depression and anxiety. However, to the best of our knowledge, their comparative effect on the QoL of postmenopausal women with depression and anxiety has not been studied in the Indian setup. Materials and Methods: The present study was a randomized, intention to treat, open-label trial undertaken in North India's a tertiary care teaching hospital. Postmenopausal women attending the psychiatry outpatient department and newly diagnosed with depression and anxiety were randomized in two groups to receive Tab. Escitalopram 10-20 mg and Tab. Desvenlafaxine 50-100 mg. Their QoL was assessed using the WHOQOL BREF scale at baseline, 3 weeks and 6 weeks. Results: Escitalopram was observed to be statistically better than desvenlafaxine in improving the overall QoL score of the WHOQOL-BREF scale. Individually, escitalopram significantly improved the scores of the physical health domain, psychological and environmental domains except for the social relationship domain. Desvenlafaxine significantly improved scores of all four domains. Conclusion: Escitalopram was observed to be significantly better than desvenlafaxine in improving the overall QoL scores. Both the drugs were well tolerated.

Association of toll-like receptor 2 gene polymorphism (rs3804099) with susceptibility to Schizophrenia risk in the Dogra population of Jammu region, North India

Background and objective. Schizophrenia (SCZ) is a severe mental biological disorder with a multifactorial manner of transmission and inheritance associated with environmental, developmental, and genetic set-off. It is a heritable disorder that involves genes and metabolic mechanisms in a combined effect, each conferring a small increase in the overall disease burden. Its etiology is not fully understood, although recent studies showed a relationship between SCZ and inflammation. Evidence from various studies indicates that dysregulation of TLR genes may have a role in the physiopathology of schizophrenia. In the present study, 4 polymorphisms, each in TLR1, TLR2, TLR4, and TLR6, were studied to explore their role in susceptibility to SCZ in the Dogra population of the Jammu region. Methods . Five hundred (500) individuals including 200 SCZ and 300 healthy controls were included in the study. DNA was isolated and Sanger's sequencing was performed after PCR amplification. Results. Statistically significant association of TLR2 (rs3804099) was observed in the study population, the C allele of rs3804099 is associated with the increased risk for SCZ (OR=2.667; [1.4196–5.0093 at 95%CI] P = 0.0023). No statistically significant associations with SCZ were observed in the target population at TLR1, TLR4, and TLR6. Conclusion. Study concludes that TLR2 (rs3804099) may be associated with schizophrenia in the targeted population. Advance studies can be carried out focusing on finding potential SNPs for establishing a candidate gene approach.

Genetic evidence for association of NOTCH4 variant rs2071287 with schizophrenia susceptibility in the North Indian population.

Background: Neurogenic locus notch homolog 4 (NOTCH4) regulates signaling pathways associated with neuronal maturation, a process involved in the development and patterning of the central nervous system. The NOTCH4 gene has also been identified as a possible susceptibility gene for schizophrenia (SCZ). Aim: The study aimed to determine the association of NOTCH4 polymorphisms with the risk of SCZ in the North Indian population of the Jammu region. Methods: The single nucleotide polymorphism genotyping for NOTCH4 variant rs2071287 was done by Sanger's sequencing method, and the other variant rs3131296 was done by TaqMan assay method for 207 SCZ cases and 304 healthy controls of North Indian origin. Results: This association study suggested that the rs2071287 was found to be significantly associated with SCZ. Moreover, the GG genotype of rs2071287 was observed to be associated with a higher risk for SCZ (P-value = 6.45 × 10 - 5; OR = 1.71; 95% CI, 1.31-2.24). Conclusion: To establish the potential biomarker role of this variant, large-scale association analyses in other populations is required.

Prevalence and correlates of depression in a rural adult population in Northwest India.

BACKGROUND: Mental disorders are showing a discerning upward trend globally and it is projected that by 2030, depression would be the leading cause of disease burden globally. Depression has not only confined the developed world but is increasingly seen as a major public health problem in the developing world too. METHODS: A stratified two-stage design was used to conduct a house-to-house survey in selected villages among consenting eligible members of the family. A three-part questionnaire, with the first part eliciting sociodemographic information was used. Patient Health Questionnaire (PHQ-9), the second part of the questionnaire was used to screen those positive for depression and Beck's Depression Inventory (BDI-II). The third part was used for rating the depression. Data thus collected was analyzed and Chi-square test was used as test of significance. RESULTS: The prevalence of depression was found to be 8.94% (73/816). Beck's Depression Inventory (BDI- II) for rating the depression revealed that mild depression was present in nearly half of the cases (47.95%), while 39.7% and 9.5% of the cases had moderate and severe depression, respectively. Among the various variables, literacy level, marital status, alcohol intake, chronic illness, and socioeconomic status were significantly associated with the depression. CONCLUSIONS: Prevalence of depression to the tune of 8.94% in rural adults seems to be a cause of concern for the health planners. Prevention and treatment of depression must be taken on priority and as a challenge by the health professionals.

Comparative Efficacy and Safety of Escitalopram versus Desvenlafaxine in Postmenopausal Women with Depression and Anxiety: A Randomized, Open-Label, Comparative Trial.

AIMS AND OBJECTIVES: The aim was to evaluate the comparative efficacy and safety of escitalopram versus desvenlafaxine in postmenopausal women with depression and anxiety in our study cohort. MATERIALS AND METHODS: A randomized, open-label, intention-to-treat, comparative study was conducted over a period of 1 year. Group 1 (n = 20) patients received tablet escitalopram 10 mg once daily orally which was increased to 20 mg/day when needed at the first follow-up. Group 2 (n = 20) patients received tablet desvenlafaxine 50 mg once daily orally which was increased to 100 mg/day when needed at the first follow-up. Patients were followed at 3 and 6 weeks. Primary endpoints were change in baseline scores (recorded as mean ± standard deviation) of Hamilton Depression Rating Scale (HAM-D) and Hamilton Anxiety Rating Scale (HAM-A), and safety was also assessed and compared. RESULTS: Forty patients completed the study. Escitalopram was statistically better than desvenlafaxine in reducing depression after 6 weeks of treatment (P < 0.05). Both the drugs were found to be equally effective in treating anxiety. Furthermore, they showed comparable safety and tolerability. CONCLUSION: Escitalopram appears to be more effective on short-term basis in treating depression, and both the drugs appear equally effective in combating anxiety. Furthermore, they appear to be equally safe and well tolerated in postmenopausal women with depression and anxiety.

Efficacy and Safety of Asenapine Versus Olanzapine in Combination With Divalproex for Acute Mania: A Randomized Controlled Trial.

BACKGROUND: Atypical antipsychotics are used for the treatment of acute mania, either as monotherapy or in combination with lithium or divalproex, which have a better tolerability profile as compared with typical antipsychotics. Asenapine, a newer atypical antipsychotic, has been found to be effective for the treatment of mania, with efficacy similar to olanzapine. The objective of the study was to compare the efficacy and safety of asenapine and olanzapine when used in combination with divalproex in patients with acute mania. METHODS: One hundred twenty patients aged 18 to 55 years, diagnosed with manic episode, were randomized to receive either flexible dose of sublingual asenapine (10-20 mg/d) or tablet olanzapine (10-20 mg/d), in combination with valproate 20 mg/kg per day for a period of 6 weeks. Efficacy was measured as change in Young Mania Rating Scale and Clinical Global Impression-Bipolar using intention-to-treat analysis with last observation carried forward, and safety was measured using Udvalg for Kliniske Undersøgelser scale and Modified Simpson-Angus Extrapyramidal Side Effects Scale. RESULTS: There was a significant reduction in Young Mania Rating Scale and Clinical Global Impression-Bipolar scores over time in both groups, with a significantly higher reduction in the olanzapine group as shown by the group × time interaction effect. Higher weight gain, increased sleep and appetite, and tremors were seen in the olanzapine-treated patients as compared with asenapine-treated patients; however, tongue hypesthesia was seen in the asenapine group only. CONCLUSIONS: This study found that asenapine was an effective and well-tolerated atypical antipsychotic alternative to olanzapine in combination with divalproex for the short-term management of acute mania.

Amisulpride Augmentation in Acute Catatonia.

Benzodiazepines are the first-line treatment of catatonia, but a substantial number of patients do not respond to them. Amisulpride is one of the atypical antipsychotic that has been effective for negative symptoms of schizophrenia. We examined the effect of augmentation of oral low doses of amisulpride with lorazepam on resolution of catatonic symptoms. Fifteen patients with catatonia were treated with a combination of oral lorazepam (2-4 mg) with amisulpride (100 mg). Catatonic symptoms were rated using the Bush Francis Catatonia Rating Scale at the baseline and daily thereafter. There was complete resolution of catatonic symptoms on the third day in all patients. There was significant reduction of the total Bush Francis Catatonia Rating Scale score over time (F = 181.38, P < 0.001) with a strong effect size (partial η = 0.96). Augmentation of lorazepam with low-dose amisulpride can be a reliable strategy for management of catatonia.

Efficacy and safety of escitalopram versus desvenlafaxine in the treatment of major depression: A preliminary 1-year prospective randomized open label comparative trial.

AIM AND OBJECTIVE: To compare efficacy and safety of escitalopram with desvenlafaxine in the treatment of major depression. MATERIALS AND METHODS: A total of 60 patients of depression were randomized into two groups after meeting inclusion criterion. In the first 3 weeks, escitalopram 10 mg/day was given and then 20 mg/day for the next 3 weeks in group 1 (n = 30). Desvenlafaxine in the first 3 weeks was given 50 mg/day and 100 mg/day for the next 3 weeks in group 2 (n = 30). The parameters evaluated during the study were efficacy assessments byHamilton Scale of Rating Depression (HAM-D), Hamilton Rating Scale of Anxiety (HAM-A), and Clinical Global Impression (CGI). Safety assessments were done by UKU-scale. RESULTS: Escitalopram and desvenlafaxine significantly (P < 0.001), reduced HAM-D, HAM-A, and CGI scores from their respective base lines. However, on comparison failed show any statistical difference at 3 and 6 weeks of treatment. Escitalopram and desvenlafaxine were both found to be safe and well-tolerated and there was not much difference between the two groups as evident from UKU Scale and their effect on various biochemical parameters. CONCLUSION: The present study demonstrated similar efficacy and safety in reducing depression and anxiety with both escitalopram and desvenlafaxine, but clinical superiority of one drug over the other cannot be concluded due to limitations of the small sample size.

Improving medical stores management through automation and effective communication.

BACKGROUND: Medical stores management in hospitals is a tedious and time consuming chore with limited resources tasked for the purpose and poor penetration of Information Technology. The process of automation is slow paced due to various inherent factors and is being challenged by the increasing inventory loads and escalating budgets for procurement of drugs. METHODS: We carried out an indepth case study at the Medical Stores of a tertiary care health care facility. An iterative six step Quality Improvement (QI) process was implemented based on the Plan-Do-Study-Act (PDSA) cycle. The QI process was modified as per requirement to fit the medical stores management model. The results were evaluated after six months. RESULTS: After the implementation of QI process, 55 drugs of the medical store inventory which had expired since 2009 onwards were replaced with fresh stock by the suppliers as a result of effective communication through upgraded database management. Various pending audit objections were dropped due to the streamlined documentation and processes. Inventory management improved drastically due to automation, with disposal orders being initiated four months prior to the expiry of drugs and correct demands being generated two months prior to depletion of stocks. The monthly expense summary of drugs was now being done within ten days of the closing month. CONCLUSION: Improving communication systems within the hospital with vendor database management and reaching out to clinicians is important. Automation of inventory management requires to be simple and user-friendly, utilizing existing hardware. Physical stores monitoring is indispensable, especially due to the scattered nature of stores. Staff training and standardized documentation protocols are the other keystones for optimal medical store management.

Annular pancreas, type I choledochal cyst and malrotation in a low-birth weight newborn: A case report.

We present a low-birth weight newborn who presented with bilious vomit and had a "double bubble" sign on plain abdominal X-ray. Intraoperatively, we found annular pancreas with malrotation and type I choledochal cyst. To the best of our knowledge, this is the first reported case with a combination of these anomalies.

Cycloserine induced psychosis with hepatic dysfunction.

With the increase in the cases of multidrug resistance tuberculosis, second line anti-tubercular drugs like the cycloserine are being prescribed frequently. Isoniazid and ethambutol are reported to cause psychosis like state; however, few reports of cycloserine induced psychosis are available. To the best of our knowledge, this is the first case of cycloserine induced psychosis with hepatic dysfunction.

Olanzapine discontinuation emergent recurrence in bipolar disorder.

OBJECTIVE: The efficacy of atypical antipsychotics including olanzapine in acute treatment of manic episode has been established, whereas its role in maintenance treatment is not clear. MATERIALS AND METHODS: Thirteen patients of bipolar disorder who were on regular treatment with mood stabilizer and subsequently relapsed into mania or depressive episode after discontinuation of olanzapine were studied for various socio-demographic and clinical factors using retrospective chart review. RESULTS: There was no correlation found between the period of tapering olanzapine, time to recurrence of episode after discontinuation, and the dosage of olanzapine at the time of discontinuation. The predominant early signs of relapse after discontinuation of olanzapine included sleep disturbance (72.7%), lack of insight for change in behavior (72.7%), irritability (54.5%), and elevated mood (45.5%). CONCLUSION: Mood stabilizer alone as a maintenance therapy of bipolar disorder may be inadequate for long-term management. A low dose of olanzapine along with mood stabilizers might be useful for prevention of recurrence in bipolar disorder.

Angiofibroma on cheek mucosa: a rare entity and its management with laser.

A rare presentation of an angiofibroma in the oral cavity is reported, which was treated with a diode laser. The benefits of laser treatment include bloodless procedure with instant precise coagulation of vessels. Although rare and unusual, it is suggested that angiofibroma should be included as one of the differential diagnoses of soft tissue swellings in the oral cavity.

Gastric teratoma-unusual cause of neonatal obstructive jaundice: a case report.

The gastric teratoma is a very rare tumour that usually presents as an abdominal mass, gastrointestinal bleeding with/without features of gastric outlet obstruction. We report a rare case of immature gastric teratoma in a two months old female child who presented with abdominal lump and jaundice. The presentation was a diagnostic challenge and a dilemma, added by the fine needle aspiration cytology (FNAC) suggestive of small round cell tumor, favouring diagnosis of Wilms tumor over Neuroblastoma. Intra-operatively the tumor was found compressing upon the common bile duct (CBD). Final histopathological examination (HPE) revealed immature gastric teratoma Grade III. We wish to highlight this unusual presentation of gastric teratoma manifesting with obstructive jaundice and fallacy of FNAC in the diagnosis of teratomas.

Asperger disorder in adults.

Asperger disorder was first described in 1944 by the Austrian pediatrician, Hans Asperger. It was introduced as a separate diagnostic category from autistic disorder in DSM-IV and ICD-10. The pattern of comorbidity in Asperger disorder is different from autistic disorder, with a higher level of psychosis, violent behavior, anxiety, and mood disorders. We present three cases of Asperger disorder diagnosed for the first time in adulthood, with psychosis being the predominant reason for the referral. In each case, the psychosis improved with antipsychotic treatment, although core autistic symptoms remained the same.