Deficiency Disorders Research Articles

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

TANGO2 deficiency disorder (TDD) is a rare, autosomal recessive condition caused by pathogenic variants in TANGO2, a gene residing within the region commonly deleted in 22q11.2 deletion syndrome (22q11.2DS). Although patients with 22q11.2DS are at substantially higher risk for comorbid TDD, it remains underdiagnosed within 22q11.2DS, likely due to overlapping symptomatology and a lack of knowledge about TDD. Initiation of B-vitamin supplementation may provide therapeutic benefit in TDD, highlighting the need for effective screening methods to improve diagnosis rates in this at-risk group. In this retrospective, multicenter study, we evaluated two cohorts of patients with 22q11.2DS (total N = 435) for possible comorbid TDD using two different symptom-based screening methods (free text-mining and manual chart review versus manual chart review alone). The methodology of the cohort 1 screening method successfully identified a known 22q11.2DS patient with TDD. Combined, these two cohorts identified 21 living patients meeting the consensus recommendation for TANGO2 testing for suspected comorbid TDD. Of the nine patients undergoing TANGO2 sequencing with del/dup analysis, none were ultimately diagnosed with TDD. Of the 12 deaths in the suspected comorbid TDD cohort, some of these patients exhibited symptoms (rhabdomyolysis, cardiac arrhythmia, or metabolic crisis) suspicious of comorbid TDD contributing to their death. Collectively, these findings highlight the need for robust prospective screening tools for diagnosing comorbid TDD in patients with 22q11.2DS.

Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis

ObjectiveCDKL5 deficiency disorder (CDD), an epileptic encephalopathy for which novel therapeutics are under development, lacks valid and reliable measures of therapeutic efficacy. We aimed to elucidate the neurophysiological and brain structural features of CDD patients and identify objective indicators reflecting the clinical severity. MethodsTwelve CDD patients and 12 healthy controls (HCs) participated. The clinical severity of CDD was scored using the CDD severity assessment (CDD-SA). The participants underwent visual evoked potential (VEP), auditory brainstem response (ABR), structural MRI, and diffusion tensor imaging (DTI) analyses. Measurements from each modality were compared with normal values of age-matched cohorts (VEP and ABR) or statistically compared between CDD patients and HCs (MRI). ResultsVEP showed a significant correlation between P100 latency and CDD-SA in CDD patients. ABR showed abnormalities in six patients (50%), including prolonged V-wave latency (n = 2), prolonged inter-peak latency between waves I and V (n = 3), and mild hearing loss (n = 4). Structural MRI showed a significant reduction in cortical volume in the left pars triangularis and right cerebellum compared with HCs. DTI showed a widespread decrease in fractional anisotropy and an increase in mean and radial diffusivity compared with HCs. ConclusionCDD patients had reduced cortical volume in the left pars triangularis, a brain region crucial for speech, and one-third of patients had mild hearing loss. These changes may be involved in language impairments in CDD patients. Additionally, P100 latency significantly correlated with the clinical severity. These features can be used to assess the clinical severity of CDD.

Evaluation of Iodine and Goitrogens in Selected Vegetables from Owerri Imo State in Nigeria

The prevalence of iodine deficiency disorders remains a challenge in numerous developing nations despite widespread advocacy for iodized salt and iodine-fortified foods. As a result, this study assesses the iodine content of ten selected vegetables—water leaf, okra, green, tomatoes, lettuce, “okazi”, “ugu”, cabbage, “uha” leaf, and garden egg leaf. The result revealed varying iodine concentrations among these vegetables: 159.93±2.25 μg/kg for water leaf, 151.27±1.61 μg/kg for okra, and 160.43±4.37 μg/kg for green. Tomatoes exhibited 110.10±2.76 μg/kg, while lettuce had 181.27±1.76 μg/kg. “Okazi”, “ugu”, cabbage, “uha” leaf, and garden egg leaf showed iodine levels of 155.10±3.50 μg/kg, 153.43±2.47 μg/kg, 96.10±2.00 μg/kg, and 127.77±3.01 μg/kg, respectively. The evaluation for goitrogens demonstrated sufficient presence in these vegetables, with notable exceptions such as zinc, which was found in lower concentrations in “ugu”, lettuce, “okazi”, and cabbage, and was absent in “uha” leaf, garden egg leaf, green, water leaf, and okra. Based on these results, it was concluded that Owerri's vegetables exhibit relatively high iodine content within recommended dietary allowances. Consequently, ongoing vigilance is advised for the salt iodization program to prevent excess iodine intake, particularly among high-risk populations.

Disorders in Amino Acid Metabolism Associated with Seizures

Seizures are a common presenting manifestation in children with amino acid metabolism disorders such as maple syrup urine disease (MSUD), nonketotic hyperglycinemia, sulfite oxidase deficiency, serine deficiency, and GABA-related disorders. In monoamine biosynthesis disorders, seizures are rare, but paroxysmal dystonia is often misdiagnosed as seizures. Metabolic changes, including amino acid turnover, have been noted during epileptogenesis and chronic epilepsy. Autophagy, a catabolic pathway crucial for maintaining tissue and organism homeostasis, is influenced by amino acids and plays a role in brain physiology and pathology, including epileptic disorders. Amino acid synthesis defects can cause neurological symptoms such as early-onset seizures, mental disability, and skin disorders. Besides neurological symptoms, amino acid metabolism disorders can impact other organ systems, resulting in various clinical manifestations. Early recognition and proper management of these disorders are vital for preventing long-term complications and enhancing patient outcomes. Ongoing research into the complex relationship between amino acid metabolism and neurological function may offer new insights into the pathogenesis of seizures and other neurological disorders.

Prevalence and patterns of vitamin D deficiency and its role in cognitive functioning in a cohort from South India.

Vitamin D (VitD) is a naturally occurring, fat-soluble vitamin which regulates calcium and phosphate homeostasis in the human body and is also known to have a neuroprotective role. VitD deficiency has often been associated with impaired cognition and a higher risk of dementia. In this study, we aimed to explore the relationship between levels of VitD and cognitive functioning in adult individuals. 982 cognitively healthy adults (≥ 45years) were recruited as part of the CBR-Tata Longitudinal Study for Aging (TLSA). Addenbrooke's cognitive examination-III (ACE-III) and Hindi mental status examination (HMSE) were used to measure cognitive functioning. 25-hydroxyvitamin D [25(OH)D] levels were measured from the collected serum sample and classified into three groups- deficient (< 20ng/ml), insufficient (20-29ng/ml) and normal (≥ 30ng/ml). Statistical analysis was done using IBM SPSS software, version 28.0.1.1(15). The mean age of the participants was 61.24 ± 9years. Among 982 participants, 572 (58%) were deficient, 224 (23%) insufficient and only 186 (19%) had normal levels of VitD. Kruskal-Wallis H test revealed a significant difference in age (p = 0.015) and education (p = 0.021) across VitD levels and the Chi-square test revealed a significant association between gender (p = 0.001) and dyslipidemia status (p = 0.045) with VitD levels. After adjusting for age, education, gender and dyslipidemia status, GLM revealed that individuals with deficient (p = 0.038) levels of VitD had lower scores in ACE-III verbal fluency as compared to normal. Additionally, we also found that 91.2% individuals who had VitD deficiency were also having dyslipidemia. It is concerning that VitD deficiency impacts lipid metabolism. Lower levels of VitD also negatively impacts verbal fluency in adult individuals. Verbal fluency involves higher order cognitive functions and this result provides us with a scope to further investigate the different domains of cognition in relation to VitD deficiency and other associated disorders.

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

Germline gain of function variants in the oncogene ABL1 cause congenital heart defects and skeletal malformations (CHDSKM) syndrome. Whether a corresponding ABL1 deficiency disorder exists in humans remains unknown although developmental defects in mice deficient for Abl1 support this notion. Here, we describe two multiplex consanguineous families, each segregating a different homozygous likely loss of function variant in ABL1. The associated phenotype is multiple congenital malformations and distinctive facial dysmorphism that are opposite in many ways to CHDSKM. We suggest that a tight balance of ABL1 activity is required during embryonic development and that both germline gain of function and loss of function variants result in distinctively different allelic congenital malformation disorders.

Indian Thyroid society expert consensus on salt Iodisation

ABSTRACT Iodine, an essential micronutrient, is crucial for the production of thyroid hormones - triiodothyronine(T3) and thyroxine(T4). Thyroid hormones regulate the optimum mental development, physical growth and development, regulation of body metabolism, heat generation, and maintenance of body temperaturein an individual. Geological processes like flooding, soil erosion, deforestation, and rivers changing course, deplete the surface soil of iodine, as it is present in the top layers of soil and easily soluble in water. As a result, the population residing in the area with iodinedeficient soil, becomes susceptible to a spectrum of functional and developmental abnormalities due to dietary deficiency of iodine. Universal Salt Iodization (USI) for prevention of IDDs in India is a public health success story. The adoption of the salt iodization strategy serves as a textbook example of the journey of an intervention through the iterative loop of research to policy to programme. Salt iodization has proved to be a safe, accessible, available, affordable, and cost-effective strategy to address the burden of IDDs in India. India has been at the forefront of the efforts to control IDDs globally. India is on its way to achieving the target of &gt; 90 percent household coverage of adequately iodized salt. Revised Food Safety and Standards (Fortification of Foods) Regulations released in 2019 introduced an upper limit for iodine concentration in salt, the adequate iodine level required at the production and consumer level, including the distribution channel at 15 – 30 ppm. Universal Salt Iodisation (USI) is India's public health success story. There is a need to consolidate progress so far and focus on strategy to reach the “last mile”. Sustainable elimination of Iodine Deficiency Disorders (IDDs) with Universal Salt Iodisation (USI) being the primary strategy needs to also factor in harmonisation with salt reduction strategy for control of non-communicable diseases.

Screen time and effects on attention deficient hyperactivity disorder in children - A systematic review

In recent years, screen time exposure and attention-deficit hyperactivity disorder (ADHD) symptom interrelations in children have garnered increasing attention. Understanding the screen time’s impact on ADHD has become crucial due to its potential influence on socialization, neurobehavioral development, and the prevalence of ADHD among pediatric populations. Conforming to the guidelines of the preferred reporting items for systematic reviews and meta-analyses, a systematic examination was undertaken, centering on research investigating the correlation between screen time and ADHD symptoms in children. The search encompassed databases including MEDLINE (through PubMed), ScienceDirect, Wiley online library, PsycINFO, ERIC, JSTOR, and PsycArticles, utilizing descriptors such as “screen time” and “attention-deficit hyperactivity disorder.” The initial search yielded 2480 articles, supplemented by an additional 10 articles from reference searches, resulting in a total of 2480 records. Excluding the duplicates, 1590 articles were screened based on abstracts, of which 130 underwent full-text examination. Ultimately, 15 studies included in this review met the inclusion criteria. These studies, conducted between 2013 and 2023, comprised cross-sectional, longitudinal, and interventional designs, presenting varying associations between screen time and ADHD symptoms across different age groups. The findings from the selected studies depict a complex relationship between screen time exposure and ADHD symptoms in children. While some studies highlight significant correlations between increased screen exposure and ADHD symptoms, others present conflicting results, indicating the need for further research. Understanding these nuances is crucial in formulating targeted interventions and delineating clearer guidelines to manage screen time concerning ADHD in children.

Current understanding of ELF4 deficiency: a novel inborn error of immunity.

ELF4 deficiency has been recently recognized as a novel disorder within the spectrum of inborn errors of immunity (IEIs), specifically categorized as a "disease of immune dysregulation." Cases of this condition, reported by our team and others, are very limited worldwide. As such, our current knowledge of this new disease remains preliminary.This review aims to provide a brief overview of the clinical manifestations, pathogenesis, and treatment strategies for this novel IEI. A comprehensive review was conducted after an extensive literature search in the PubMed/Medline database and websites concerning transcriptional factor ELF4 and reports concerning patients with ELF4 deficiency. Our search strategy was "ELF4 OR ETS-related transcription factor Elf-4 OR EL4-like factor 4 OR myeloid Elf-1-like factor" as of the time of manuscript submission. The current signature manifestations of ELF4 deficiency disorder are recurrent and prolonged oral ulcer, abdominal pain, and diarrhea in pediatric males. In some cases, immunodeficiency and autoimmunity can also be prominent. Targeted Sanger sequencing or whole exome sequencing can be used to detect variation in ELF4 gene. Western blotting for ELF4 expression of the patient's cells can confirm the pathogenic effect of the variant. To fully confirm the pathogenicity of the variant, further functional test is strongly advised. Glucocorticoid and biologics are the mainstream management of ELF4 deficiency disorder. Pediatric males presenting with recurring ulcerations in digestive tract epithelium with or without recurrent fever should be suspected of DEX. When atypical presentations are prominent, variations in ELF4 gene should be carefully evaluated functionally due to the complex nature of ELF4 function. Experience of treating DEX includes use of glucocorticoid and biologics and more precise treatment needs more patients to identify and further mechanistic study.

Assessment of Attitude, Knowledge and Prevention of Anemia in Pregnancy among Women Attending Antenatal Care in Udi LGA in Enugu State, Nigeria

This study evaluated the knowledge, attitude and preventive practices towards anemia among women attending ANC in Udi LGA, Enugu State. Anemia is one of the most common nutritional deficiency disorders affecting pregnant women in developing countries, including Nigeria. Anemia during pregnancy is commonly associated with poor pregnancy outcomes and can result in complications that threaten the life of both the mother and fetus. Specific objectives of this study are; to determine the knowledge level of women attending ANC in selected clinics in Udi LGA on anemia, to determine the attitude towards anemia among women attending ANC clinic and to evaluate the knowledge level on preventive measures against anemia among women attending ANC in Udi LGA. A questionnaire-based study was implored to obtain direct information from the respondents and a total of three hundred and eighty-seven (387) respondents were captured. The mean age of the respondents is 32 years. Those between the ages of 26-30 and 31-35 are the highest in number with the frequency of 100 (25.83). Majority of the respondents 159 (46.08) had tertiary education. The results showed that most of the respondents (74.0%) had a good knowledge of anemia in pregnancy. About, 19.2% had an average level of knowledge while 6.8% had a poor knowledge of anemia in pregnancy. It also showed that (59.5%) had a right or excellent attitude towards anemia in pregnancy. About, 27.7% had an average or fair attitude. More so, (75.7%) had an excellent preventive measure towards anemia during pregnancy. Therefore, this study shows that the majority of the respondents have good knowledge, the right attitude and preventive measures towards anemia during pregnancy. Thus more effort is encouraged in sensitization of the public.

Cannabidiol attenuates seizure susceptibility and behavioural deficits in adult CDKL5R59X knock-in mice.

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is caused by a loss-of-function mutation in CDKL5 gene, encoding a serine-threonine kinase highly expressed in the brain. CDD manifests with early-onset epilepsy, autism, motor impairment and severe intellectual disability. While there are no known treatments for CDD, the use of cannabidiol has recently been introduced into clinical practice for neurodevelopmental disorders. Given the increased clinical utilization of cannabidiol, we examined its efficacy in the CDKL5R59X knock-in (R59X) mice, a CDD model based on a human mutation that exhibits both lifelong seizure susceptibility and behavioural deficits. We found that cannabidiol pre-treatment rescued the increased seizure susceptibility in response to the chemoconvulsant pentylenetetrazol (PTZ), attenuated working memory and long-term memory impairments, and rescued social deficits in adult R59X mice. To elucidate a potential mechanism, we compared the developmental hippocampal and cortical expression of common endocannabinoid (eCB) targets in R59X mice and their wild-type littermates, including cannabinoid type 1 receptor (CB1R), transient receptor potential vanilloid type 1 (TRPV1) and 2 (TRPV2), G-coupled protein receptor 55 (GPR55) and adenosine receptor 1 (A1R). Many of these eCB targets were developmentally regulated in both R59X and wild-type mice. In addition, adult R59X mice demonstrated significantly decreased expression of CB1R and TRPV1 in the hippocampus, and TRPV2 in the cortex, while TRPV1 was increased in the cortex. These findings support the potential for dysregulation of eCB signalling as a plausible mechanism and therapeutic target in CDD, given the efficacy of cannabidiol to attenuate hyperexcitability and behavioural deficits in this disorder.

Iodine Fortification Study of Some Common Nigerian Vegetables Using Copper Complex

Iodine deficiency (ID) is the result of insufficient dietary iodine intake in humans, the deficiency not only leads to goiter formation but also to severe retardation of growth, development and maturation of nearly all the tissues of the body, especially those that are fast developing. The aim of this research is to evaluate levels of iodine intake by ten Nigerian vegetables using copper complex. Dry alkaline ash method was used in the determination. The results obtained showed that all the ten vegetables used absorbed high concentrations of iodine when inoculated with 0.09 M and 0.14 M [Cu(I)4]2- . Iodine phytotoxicity was observed in all the plants when inoculated with 0.2-0.8 M of the copper complex as all the plants died. Increase in the concentration of copper complex from 0.09-0.14 M increased the absorption of iodine by Amaranthus hybridus, Corchorous olitoruis, Gongronema lotifolium and Solanum melongena. The reverse was observed with Murraya koenigii, Ocimum gratissimum, Talinium triangulare, Abelmoschus esculentus, Cucurbita pepo and Telfairia occidentalis. Ocimum gratissimum absorbed the iodine at 0.09M with value of 164.79 mg/kg, the vegetable also absorbed least at 0.14 M with a dose of 61.80 mg/kg. The intake of the iodine by the plants showed that the method can be used in the fortifying these Nigerian vegetables with iodine, thereby reducing the incidence of Iodine deficiency disorder in humans.

Exogenous application of gibberellic acid reduces antioxidant capacity of leaves, resulting in increased Tipburn damages in Lisianthus cultivars

Tipburn (calcium (Ca) deficiency disorder of new leaf tips) is a severe problem in horticultural crop production. Studies have focused on the fact that tipburn commonly occurs during bolting and shown that plants exhibited greater tipburn damage than the control when bolting was induced using exogenous gibberellic acid (GA). However, why exogenous GA application enhances tipburn damage and why tipburn occurs during bolting remains unclear. To address this knowledge gap, we investigated the occurrence of tipburn, Ca concentrations in each organ, antioxidant capacity (superoxide dismutase (SOD) and catalase activity), and gene expression in three lisianthus cultivars (‘Umihonoka’ (UH), ‘Reina White’ (RW), and ‘Voyage Peach’ (VP)), where bolting was induced through exogenous active GA application (GA treatment) and discussed the cause of tipburn occurring during bolting. The incidence and severity of tipburn in the GA treatment were significantly higher than those in the control group in all cultivars. The Ca concentrations in the top leaves of the GA treatment were similar to or higher than those in the control treatment for all cultivars. In contrast, SOD activity in VP was significantly lower in GA treatment than that in the control, which was consistent with the results of SOD-CuZn expression. Additionally, significantly lower catalase activity at GA treatment were detected in the UH and RW than at the control. Recent studies have reported that reactive oxygen species and antioxidants significantly affect the appearance of blossom-end rot. Therefore, exogenous GA application decreased the antioxidant capacity of the upper leaves, resulting in increased tipburn damage. In addition, it is known that a decrease in antioxidant capacity and an increase in H2O2 concentration in leaves of Arabidopsis is a trigger for the initiation of bolting. Our findings provide important insight into the causes and ecological implications of tipburn during bolting.

Impaired coenzyme A homeostasis in cardiac dysfunction and benefits of boosting coenzyme A production with vitamin B5 and its derivatives in the management of heart failure.

Coenzyme A (CoA) is an essential cofactor required for over a hundred metabolic reactions in the human body. This cofactor is synthesized de novo in our cells from vitamin B5, also known as pantothenic acid, a water-soluble vitamin abundantly present in vegetables and animal-based foods. Neurodegenerative disorders, cancer, and infectious diseases have been linked to defects in de novo CoA biosynthesis or reduced levels of this coenzyme. There is now accumulating evidence that CoA limitation is a critical pathomechanism in cardiac dysfunction too. In the current review, we will summarize our current knowledge on CoA and heart failure, with emphasis on two primary cardiomyopathies, phosphopantothenoylcysteine synthetase and phosphopantothenoylcysteine decarboxylase deficiency disorders biochemically characterized by a decreased level of CoA in patients' samples. Hence, we will discuss the potential benefits of CoA restoration in these diseases and, more generally, in heart failure, by vitamin B5 and its derivatives pantethine and 4'-phosphopantetheine.

Effect of Concomitant Antiseizure Medications on the Safety and Efficacy of Ganaxolone for the Treatment of Seizures Associated with CDKL5 Deficiency Disorder (CDD): Findings from the Phase 3 MARIGOLD Study (P8-1.006)

Effect of Concomitant Antiseizure Medications on the Safety and Efficacy of Ganaxolone for the Treatment of Seizures Associated with CDKL5 Deficiency Disorder (CDD): Findings from the Phase 3 MARIGOLD Study (P8-1.006)

Analysis of Real-world Characteristics of Patients with CDKL5 Deficiency Disorder Enrolled for Ganaxolone Treatment (P6-1.010)

Analysis of Real-world Characteristics of Patients with CDKL5 Deficiency Disorder Enrolled for Ganaxolone Treatment (P6-1.010)

Phase Ⅱ clinical trial of PD-1 inhibitor combined with chemotherapy for locally advanced resectable oral squamous cell carcinoma

Objective: To explore the effectiveness and safety of programmed death 1(PD-1) inhibitory combined with chemotherapy as a neoadjuvant therapy for locally advanced resectable oral squamous cell carcinoma. Methods: This study was a randomized controlled phase Ⅱ trial. Patients recruited from Tianjin Medical University Cancer Institute and Hospital from July 2021 to February 2023 were randomly divided into two groups in a 1∶1 ratio: the experimental group (Toripalimab combined with albumin paclitaxel and cisplatin) and the control group (albumin paclitaxel and cisplatin); patients in both groups underwent three cycles of neoadjuvant therapy. After completion of neoadjuvant therapy, patients were evaluated and subsequent surgical treatment was performed. According to the completion of treatment, the analysis was conducted on both the full analysis set and the protocol set. The effectiveness and safety of treatments were evaluated. SPSS 20.0 software was used for statistical analysis. Results: A total of 41 cases with oral cancer were enrolled, including 26 males and 15 females, aged between 34 and 74 years old. There were 23 cases in the experimental group and 18 cases in the control group. A total of 23 cases completed neoadjuvant therapy and surgery according to the protocol. Experimental group and control group showed respectively the complete response rates of 1/19 and 0/17, the partial response rates of 13/19 and 8/17, the stage-down rates of 4/19 and 3/17, the pathologic complete response rate of 8/14 and 2/9, with no statistically significant differences in individual rates between two groups (P>0.05). The major pathological response rate of 13/14 in experimental group was higher than that of 2/9 in control group (P<0.05). The incidence of grade 3-4 adverse reactions related to treatment was low in both groups (4/23 vs. 3/18, χ2=0.13, P=0.72), and the most common serious adverse reactions in the experimental group were granulocyte deficiency and electrolyte disorder. There were no adverse reactions that affected subsequent surgical treatment or caused death, and the safety and tolerability were good. The median follow-up time was 15 months, and the one-year disease-free survival rate of the experimental group was higher than that of control group (92.86% vs. 77.78%, χ2=0.62, P=0.42), with a relative decrease of 87% in the risk of disease progression or death (P=0.029). For patients with programmed death-ligand 1(PD-L1) protein expression combined positive score≥20, the experimental group showed higher major pathological response rate than control group (5/5 vs. 0/4, P=0.03). Conclusion: The neoadjuvant therapy of immunotherapy combined with chemotherapy can improve the pathological remission of oral squamous cell carcinoma and the long-term survival benefits and the prognosis of patients.

A Study of Frequency of Anemia in Pregnant Females in Tertiary Care Hospital, Islamabad

Background: Anemia is among the most public hematological disorders, especially in pregnancy. It is a nutritional deficiency disorder that affects pregnant women, mainly in underdeveloped countries. Pregnant women who suffer from anemia often have bad pregnancy outcomes and may lead to difficulties that endanger both the mother's and the fetus's health. This study aimed was to determine the frequency of anemia among pregnant women in tertiary care hospitals in Islamabad. Material and Methods: This cross-sectional investigation was carried out in the Dr. Akbar Niazi Teaching Hospital's pathology and gynecology department in Islamabad. All the pregnant women who visited for antenatal check-ups from January 2021 to December 2021 were involved in the study. Data was taken through a specially designed proforma and statistical analysis was accomplished using SPSS version 21. Results: A total number of 93 pregnant females were enrolled in the study. The average age of pregnant women was 30.6 ± 6.0 (20-43). The average hemoglobin in our study population was 11.1± 1.4 (8-13 g/dL). The mean range of WBC counts was 11,304/mm3 ±7722 (4100/mm3 - 81000/mm3), the mean value of RBC count was 4.1 mil/mm3 ± 0.6 (2-5 mil/mm3). The overall prevalence of anemia in pregnant females was 45% (n=42). Out of 42 pregnant anemic women, 25 (59%) had normocytic normochromic type of anemia, 15 (36%) had microcytic type of anemia, and 2 (5%) had macrocytic type of anemia. Mild anemia was recorded in 26 (30%) of the pregnant females, while moderate anemia was recorded in 16 (17%) of the pregnant females, and 51 (55%) of the pregnant females had no anemia. Conclusion: Anemia was found in the majority of pregnant females visiting tertiary care teaching hospitals. The frequency of mild anemia was high and also according to severity. The most common morphological type of anemia was normocytic normochromic. The overall prevalence of anemia in pregnancy was 45% (n=42).55% of pregnant women were non-anemic and new severe anemia was detected.

A Clinico-epidemiological Study to Evaluate the Status of Iodine Deficiency Disorder in North 24 Pargana District of West Bengal

Background: Iodine deficiency disorders (IDD) being major public health problems in India, including WestBengal needs to be continuously monitored through recommended methods and indicators.Present study is aiming to assess the total goiter rate, urinary iodine excretion, iodine content of salts at households’ level among primary school children and to find association with the socio-demographic characteristics of the study population.Method: A school-based, cross-sectional study was conducted during March 2019 to August 2019 among 540schoolchildren of class three and four. Goiter was assessed by standard palpation technique, urinary iodineexcretion (UIE) was analyzed by wet digestion method and salt samples were tested by spot iodine testing kits.The total goiter rate (TGR) was 10.56 %. About 97.22 % of the salt samples tested were adequately iodized. Though consumption of iodized salt was adequate irrespective of socio demographic characteristics; goiter prevalence was significantly different with respect to mother’s education level. Median urinary iodine excretion was found to be with in normal range. Lastly, a comparison is made between indicators of IDD over years which showed significant fall of TGR % of North 24 Pgs and a significant increase of adequately iodized salt consumption from 2004 to 2019.Conclucion: 2019 resurvey of North 24 parganas indicates that the district achieved close to the goal of NIDDCP i.e. prevalence of IDD should be below 10%. It also proved that universal salt iodinization program has increased the household’s iodine consumption above national goal of 91.2%. Goiter prevalence is found to be less in children whose mother attend the education up to 12th standard and beyond.

Tracking Progress Towards Sustainable Elimination of Iodine Deficiency Disorders in Selected four Districts of Bihar: An Epidemiological Study

Introduction: Iodine Deficiency Disorders (IDDs) remain a significant global public health challenge, with severe consequences ranging from congenital anomalies, Goitre to mental deficiency. Preventing these disorders through iodized salt consumption is cost-effective and efficient.Aims/ objective: To assess the prevalence of goitre and the proportion of households using adequately iodized salt in selected four districts (Saran, Muzaffarpur, Samastipur, Patna) of Bihar (a state in eastern India) using WHO/UNICEF/ICCIDD criteria.Materials and Method: A community-based cross-sectional study was conducted among children aged 6-12 years.A multi-stage sampling method was employed, and iodine content in household salt samples were analysed.Results: The results showed that the prevalence of goitre ranged from 0.9% to 4.63% across districts, indicating that goitre is not a public health problem. Adequate iodized salt consumption varied from 71.95% to 86.72%,falling short of the 90% USI goal. Urinary iodine excretion data were not available due to ongoing laboratory setup in PMCH, Patna.Conclusion: The study underscores the need for strengthened monitoring and evaluation to ensure thesustainability of IDD control activities for achieving sustainable elimination of IDD in Bihar.