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Background Vitamin D (Vit-D) plays a central role in calcium homeostasis and maintains skeletal integrity. Housewives in Quetta, Pakistan are at increased risk of vitamin D deficiency (VDD). They spend a greater part of their day in cleaning, washing, cooking, managing daily groceries, and other household chores. Thus, little time is left for self-care and outdoor activities. They wear hijab and have very little exposure to sunlight. In addition, their diet is deficient in Vit-D-rich food items, rendering them at high risk of VDD. Fear of getting tanned, melasma, and preference for a fair complexion further limit their sun exposure. This study evaluates the prevalence of VDD in housewives and determines its various risk factors to recommend screening guidelines for VDD. Methods A cross-sectional study was performed between November 2020 and April 2021 and recruited housewives aged >18 from the outpatient department of a tertiary care hospital in Quetta. Informed consent was obtained from all participants. VDD was defined as a serum 25(OH)-D level

Chorea is caused by a number of conditions, including genetic, metabolic derangements, infections, drugs, toxins, tumors, and disorders of the immune and inflammatory system of the body. Huntington's disease (HD) is the most common genetic cause of chorea. Systemic lupus erythematosus (SLE) is an autoimmune condition. Common symptoms include oral ulcers, joint pain, malar or discoid rashes, photosensitivity, and blood dyscrasias. It can involve the heart, lungs, kidneys, and brain. SLE can cause neuropsychiatric manifestations like psychosis, seizures, headache, confusion, and stroke. Chorea is a known symptom of SLE. HD is now recognized to involve more than one system and is associated with a number of comorbid conditions. We report the first case of hereditary choreiform disorder associated with and aggravated by SLE. This is also the first case report of probable Huntington disease from Balochistan, Pakistan. We report a 19-year-old girl with choreiform disorder and a family history of chorea. Choreiform disorder was present in her paternal grandmother and uncles. She presented with fever, cough, and aggravation of choreiform movements of upper and lower limbs for 10 days. She also complained of pain in the small joints of her hands and feet, oral ulcers, hair loss, and aggravation of choreiform movements for two and half months. Probable differential diagnoses of HD, Wilson's disease, and other types of hereditary chorea, aggravated by infections, SLE, or Covid-19, were made. Her initial lab results revealed pancytopenia, increased D-dimers and serum ferritin, positive antinuclear antibodies (ANA), and anti-double-stranded DNA (anti-dsDNA). Her C-3 and C-4 complement factors were low. The rest of the lab test results, including polymerase chain reaction (PCR) coronavirus disease ( COVID-19), blood culture, and malaria, were negative. Thus, a diagnosis of hereditary chorea associated with and aggravated by SLE was made. Hereditary choreiform disorders can be associated with and aggravated by autoimmune conditions like SLE. Thus, it is recommended to be vigilant and have a low threshold for diagnosing co-existing autoimmune conditions like SLE in patients with hereditary choreiform disorder.

Ascariasis is the most common helminthic infection. It is most common in children of tropical and developing countries where the transmission is by contamination of soil by human feces or use of untreated feces as fertilizer. Transmission in most endemic areas is via person to person contact. We hereby present a case report of acute pancreatitis due to ascariasis. Twenty-five-year-old male patient presented to us with chief complaint of acute epigastric pain radiating to back and associated with vomiting. Initial lab investigations revealed increased serum amylase and lipase. Probable diagnosis of acute pancreatitis was made. CT scan was done and report revealed bulky pancreas, and significant peri-pancreatic fat stranding. He was managed symptomatically with intravenous fluids, analgesics, anti-emetics and enteral nutrition. However, the cause remained undetermined as we ruled out the possible etiologies of acute pancreatitis until one day the patient vomited a 15-cm round worm. Thereafter, his condition improved dramatically. This is one of the first few case reports of ascariasis-induced pancreatitis from Pakistan and the first one from Baluchistan province of Pakistan. Thus it highlights ascariasis as possible etiology of acute pancreatitis in regions where ascariasis is geographically endemic.

Background Gall stone and alcohol are the two most common causes of pancreatitis. Other etiologies include trauma, post endoscopic retrograde cholangiopancreatography (ERCP), bacterial, viral, fungal, and parasitic infections, hypertriglyceridemia, medications, and scorpion bite to name a few. Hypercalcemia is a rare cause of acute pancreatitis. Hypercalcemia can be due to primary hyperparathyroidism (PHPT) manifested by raised parathyroid hormone and serum calcium level. In addition acute pancreatitis is a rare presenting complain of PHPT. PHPT can be asymptomatic or present with symptoms of bone pain, kidney stones, nephrocalcinosis, renal failure, peptic ulcer disease, accelerated atherosclerotic heart disease, hypertension and proximal muscle weakness. Osteitis fibrosa cystica is the term for radiologically visible characteristic feature of skeletal involvement. Case presentation We report a case of 20 years old male with chief complaint of epigastric and left hypochondrium pain associated with vomiting for two months. Abdominal pain was gradual in onset, radiating to back, and progressive. He also had complains of constipation, blood tinged feces and pain during defecation. Initial lab tests were significant for increased amylase, lipase and a diagnosis of acute pancreatitis was made which was confirmed by CT scan. After ruling out the common etiologies of acute pancreatitis, further investigations for uncommon etiologies revealed increased IgG-4 values suggesting autoimmune pancreatitis. However further investigations were done and it did not meet the diagnostic criteria for autoimmune pancreatitis. Covid-19 IgG antibodies were positive, however patient did not have any other symptoms of Covid-19 and PCR Covid-19 test was negative. Although Covid-19 can cause pancreatitis, given the ongoing pandemic, he might have been asymptomatically infected with Covid-19 and developed immunity. Therefore we did not believe Covid-19 to be the cause of his pancreatitis. Thus a search for other rare etiologies was initiated which revealed serum calcium of 15 mg/dL. Serum parathyroid hormone and urinary calcium were increased several times suggesting primary hyperparathyroidism. DEXA scan revealed osteoporosis. Conclusion Hypercalcemia is one of the rare etiologies of pancreatitis. Thus it should be considered as one of the etiologies of acute pancreatitis after ruling out the more common ones. Secondly, this Case report highlights acute pancreatitis as one of the rare presenting complain of primary hyperparathyroidism which may be associated with several times increased IgG-4 values. Covid-19 has been associated with a number of presenting complains and can cause acute pancreatitis, amid the ongoing pandemic physicians should exercise caution to avoid spurious association of Covid-19 with acute pancreatitis or other presenting complains.

In recent years, the demands for lithium are increasing sharply with the fast development of electrical vehicles, new green energy and portable electronic devices. To meet the demands, selective recovery of lithium from brine/seawater has attracted extensive attention. LiMn2O4 (LMO) is a good redox material for lithium recovery. However, the dissolution of Mn is inevitable during the redox process which can lead to severe capacity decay and poor cycle performance. In this paper, LiNi0.5Mn1.5O4 (LNMO) nanoparticles were prepared through one-step solid-state sintering and applied as a positive electrode in the hybrid capacitive deionization cell for lithium recovery. Cyclic voltammetry (CV) scan of the LNMO electrode in LiCl aqueous solution presented clear redox peaks, illustrating the reversible intercalation/de-intercalation of Li+ into/from LNMO; while the Na+, K+, Mg2+ and Ca2+ cations had negligible intercalation. Combined with an activated carbon (AC) negative electrode, the hybrid capacitive deionization cell (LNMO||AC) was assembled to selectively adsorb lithium, arriving at the adsorption amount of ~260 µmol/g, almost three times higher than that of the symmetric AC cell (AC||AC). Even in the Mg2+ and Li+ mixed binary salt solution at a high C Mg 2 + / C Li + ratio of 30, LNMO remained high selectivity to Li+ with the separation factor of ~104 achieved. In the synthetic brine water containing various salts, the LNMO||AC cell kept excellent selectivity to Li+ with the adsorption amount still remaining ~230 µmol/g. And the cell can preserve a retention of ~86% after 100 cycles, much higher than the LMO||AC cell (~50%). Meanwhile, neither Mn2+ nor Ni2+ were found in the cycling solution of LNMO||AC cell. Nevertheless, the LMO||AC cell deteriorated gradually with the dissolution loss ratio of Mn in LMO close to 40%. Such excellent selectivity and high stability of LNMO enable it applicable for practical lithium recovery application, superior to LMO.

Introduction: Fanconi Anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure (BMF), constitutional anomalies and high risk of developing cancer. Distinguishing FA from severe aplastic anemia (SAA) can be challenging especially in asyndromic patients. We undertook a clinical and laboratory cohort study of adolescent and young adult (AYA) patients with a diagnosis of FA treated at our institution to characterize the clinical features in our population, and conducted a prospective translational study to explore integration of a genomic and proteomic approach for improved diagnosis and molecular characterization of FA. Methods: Data on FA patients was obtained from an institutionally approved BMF database and hematopoietic stem cell transplant (HSCT) database. Further data was obtained from a register of chromosomal breakage (CB) analysis results. Index cases were identified if they were older than 14 years of age at the time of diagnosis or under the care of adult hematology with a clinical diagnosis of FA based on the presence of BMF and abnormal CB, or clinical phenotype with the presence of homozygous FA related genes. Family pedigrees were constructed based on history. In addition, patients presenting with BMF were enrolled onto an institutionally approved study investigating proteomic biomarkers and genomics of BMF syndromes. Consented peripheral blood samples and/or extracted DNA were subject to either panel based next generation sequencing (NGS) testing as part of the Saudi Genome Project or subjected to whole exome sequencing (WES) by external lab. For proteomic analysis, peripheral blood plasma (PBP) samples from 6 patients with FA, 10 SAA patients and 7 normal controls were subjected to expression proteomics using liquid chromatography tandem mass spectrometry (LC-MS/MS). Result: Patients and clinical features: 55 patients (26 M, 29 F) in 30 families were identified. While 18 patients (32%) were referred with a diagnosis/suspicion of FA, in 26 (47%) FA was diagnosed at our institution. The most frequent anomaly was short stature (14 patients, 25%), skin changes (7, 12%), urogenital abnormalities (7, 12%), dysmorphism/craniofacial abnormalities (7, 12%), hands anomalies (4, 7%); 12 (22%) had no recorded anomalies. 18 patients (33%) developed a malignancy either before or after diagnosis of FA: solid tumors in 5 (9%), AML and/or MDS in 15 (27%); 3 (5%) of these patients had both solid tumors and AML/MDS. Diagnostic Tests: 35 patients (63.6%) had a positive CB analysis with diepoxybutane (DEB) or mitomycin-C (MMC) testing; in 5 patients (9%) DEB testing was borderline and 3 (5%) had a normal CBA but had a diagnostic phenotype+/- family history and presence of a homozygous mutation in a known FA related gene. 14 patients had cytogenetic abnormalities and abnormalities involving chromosome 1 were the most frequent (50%). Mutation Analysis: Mutational analysis was available for 12 (22%) cases; homozygous mutations in FA genes were identified in 10 patients (18%) in 7 families (23% of families): FANCA (5 patients/3 families); BRIP1 (2/2); FANCP (1/1); FANCD2 (2/1). In one case, post matched sibling (HSCT) blood sample revealed a known pathogenic heterozygous c.2632G>C,p.Glu878Gln mutation in FANCA, suggesting a carrier donor. Proteomic analysis: Over 1650 unique PBP protein species were identified of which 605 were significantly differentially expressed (≥ 2 to ∞ - fold change & p < 0.001) between SAA /FA/ normal control subjects (Fig 1a). DNMT3A, Kinase Insert Domain Receptor (KDR) and TGFB-1 was found to be highly expressed in SAA versus FA, while ATM and APOB were highly expressed in FA versus SAA (Fig.1b). Treatment outcomes: 36 out of 55 patients (65%) received HSCT. Actuarial survival of HSCT (n=37) and non-HSCT (n=14) patients was 70% and 77%, respectively. Treatment details were not available on 6 (11%). CONCLUSION: We report the first characterization of AYA patients with FA in Saudi Arabia. Our report emphasizes the need for a high index of suspicion of a diagnosis of FA in BMFs. CB may be falsely negative in cases, and panel based and/or WES based NGS testing increases diagnostic accuracy; in this cohort, mutations in FANCA were the most frequent (50%). Occurrence of hematological and solid tumors is a significant risk in these AYA patients. We also report proteomic panels as potential biomarkers that distinguish FA from SAA and may provide mechanistic insights. Disclosures No relevant conflicts of interest to declare.

Background: Primary central nervous system lymphoma (PCNL) is relatively uncommon type of lymphoid malignancy and there is paucity of data on the incidence and prevalence, outcomes of these patients from Middle Eastern region. Methods: We did a retrospective chart review of over 1200 patients diagnosed with lymphoma at our centre which is a tertiary care teaching hospital. We identified 10 patients (over the age of 18 years) with PCNL over a ten year period from 2005-2015. Results: Out of 10 patients, 4 (40%) were males. Majority was over 45 years of age (70%). 8 of 10 (80%) patients had ECOG performance status of 3 or more. Histologically, 8 of 10 (80%) patients belonged to diffuse large B cell lymphoma, the rest were primary burkitt's lymphoma of the brain and primary T cell lymphoma respectively. Modalities of treatment received were Whole Brain Radiotherapy only (20%), High Dose Methotrexate (HD MTX) with High Dose Cytarabine (HD ARA C) (40%), both chemoradiation (40%), no treatment due to poor performance status (20%). Rituximab was given to all patients who received chemotherapy. Patient with Primary Burkitt's lymphoma received anthracycline containing combination chemotherapy with high dose methotrexate (RCHOPM) along with intrathecal chemotherapy. In the chemotherapy group 67% of patients achieved (4 out of 6) either partial remission (PR) or complete remission (CR) while 33% were refractory to treatment. Two patients (20%) received upfront radiotherapy only and achieved PR and CR respectively. Of the two patients who were refractory to upfront chemotherapy, one was salvaged with WBRT and is alive after 5 years, the other was lost to follow up. Of two patients who received upfront radiotherapy one was lost to follow up, the other relapsed after nearly 47 months later and was salvaged with Temozolamide and Rituximab, achieved partial remission and is well at the time of analysis. Of the evaluable 8 of 10 patients, at a median follow up of 31 months (Range1-66), 6 patients were alive and four without relapse or progression with an overall survival and progression free survival of 75% and 50% respectively. Discussion: To our knowledge this is the first case series of PCNL from Saudi Arabia or Middle East. All the evaluable patients who received treatment are alive at the time of analysis. Our series shows PCNL is extremely rare malignancy even this part of the world and DLBCL remains the commonest histological form like in west. Radiotherapy remains valuable tool and can salvage patients refractory to chemotherapy achieving long periods of remission, its utility must not be underestimated even in elderly. Outcomes of patients at our institute are comparable with other centers, although numbers are small. Further detailed studies are planned to define exact incidence, prevalence, characteristics and outcomes of these patients from this region. Disclosures No relevant conflicts of interest to declare.

Background: Secondary central nervous system (CNS) involvement with diffuse large B cell lymphoma (DLBCL) is associated with poor outcomes. We looked at characteristics and outcomes of these patients treated at King Fahad Medical City, Riyadh over eleven year period from 2005-2016. Methods: Out of 1235 patients diagnosed with lymphoma at our centre over a ten year period from 2005 to 2016 we identified 10 adult patients over the age of 18 years, who had DLBCL with secondary CNS involvement. It was a retrospective chart review. Results: Out of 10 patients, 4 (40%) were males and 6 (60%) were females.7 of 10 (70%) were over 45 years of age. All patients had stage III disease or beyond with at least one extranodal involvement at presentation. All patients had evidence of CNS involvement either radiologically or histologically or both. 9 of 10 patients (90%) had CNS involvement within one year of presentation (whilst on treatment or within a year of diagnosis) while one patient had been treated for gastric lymphoma 10 years before relapse. 2 of 10 (20%) patients presented with concurrent CNS involvement at initial presentation while 8 of 10 (80%) had CNS involvement in addition to systemic disease due to progression of disease whilst on treatment or due to relapse. 3 of 10 (30%) patients who did not have CNS involvement at presentation received CNS prophylaxis (one patient received high dose methotrexate, the three other received intrathecal chemotherapy).7 of 10 (70%) patients received anthracycline containing chemotherapy with Rituximab as upfront, the other three were unfit for intensive chemotherapy. Treatment at relapse or on progression included various modalities including High Dose Methotrexate, High Dose Cytarabine or both, Whole Brain Radiotherapy, Intrathecal Chemotherapy, Temozolamide, however all patients received Rituximab. Only one patient underwent autologous stem cell transplant but relapsed shortly afterwards. After CNS involvement, all patients (n=7) were uniformly refractory to chemotherapy/radiotherapy or both. 3 patients were unfit to receive any treatment and died within a month of diagnosis. Median survival was only 3.5 months from the time of CNS involvement (range: 1-8 months). None of the patients were alive beyond 8 months of CNS involvement. Discussion: To our knowledge this is the first case series of DLBCL with secondary CNS involvement from Middle East. This study shows that CNS involvement is rare but associated with extremely poor outcome as shown in other studies, with a median survival of only 3.5 months. None of the patients were responsive to therapy or were alive beyond 8 months of CNS involvement. It is interesting to note even 3 patients who had received some form of CNS prophylaxis also had CNS involvement, suggesting aggressive nature of disease and ineffective current form of CNS prophylaxis, even if given. Further studies are needed to define incidence and characteristics and outcomes of these patients from this region. Though numbers are small to make any specific recommendation, patients with high risk disease should be considered for intensive CNS prophylaxis upfront otherwise CNS involvement later would invariably associated with dismal outcome irrespective of any therapy. There is certainly urgent need for improvement in how we manage these high risk patients with probable inclusion of novel B cell antagonists and aggressive CNS prophylaxis upfront through well designed clinical trials. Disclosures No relevant conflicts of interest to declare.