Pancytopenia due to iron deficiency worsened by iron infusion: a case report

<p>Abstract</p> <p>Introduction</p> <p>Iron deficiency anemia is commonly associated with thrombocytosis, although thrombocytopenia has been reported in occasional patients with iron-deficiency anemia. Much less common is the development of thrombocytopenia following replenishment of iron stores.</p> <p>Case Presentation</p> <p>We present the unusual case of a 39 year old African American female Jehovah's Witness who presented with a 10 month history of menorrhagia and pancytopenia. Laboratory investigations confirmed a severe iron deficiency. Since blood transfusion was unacceptable to her, she was started on intravenous iron replacement therapy. This precipitated a sudden drop in both her platelet and white blood cell counts. Histopathological examination of the bone marrow revealed a hypercellular marrow with orderly trilineage hematopoiesis, iron deficiency anemia, granulocytic hyperplasia, and mild megakaryocytic hypoplasia. Both her white blood cell and platelet counts recovered uneventfully with continuing iron supplementation. The possible mechanism for this phenomenon is discussed in this report.</p> <p>Conclusion</p> <p>This case illustrates two rather uncommon associations of a very common problem. Severe iron deficiency anemia may be associated with pancytopenia and iron replacement may cause a transient decline in megakaryopoiesis and leukopoiesis. Severe iron deficiency should be added to the list of conditions leading to thrombocytopenia.</p

Maternal and perinatal outcomes of dengue in PortSudan, Eastern Sudan

<p>Abstract</p> <p>Aim</p> <p>To investigate maternal and perinatal outcomes (maternal death, preterm delivery, low birth weight and perinatal mortality) of dengue at PortSudan and Elmawani hospitals in the eastern Sudan.</p> <p>Method</p> <p>This was a retrospective Cohort study where medical files of women with dengue were reviewed.</p> <p>Results</p> <p>There were 10820 deliveries and 78 (0.7%) pregnant women with confirmed dengue IgM serology at the mean (SD) gestational age of 29.4(8.2) weeks. While the majority of these women had dengue fever (46, 58.9%), hemorrhagic fever and dengue shock syndrome were the presentations in 18 (23.0%) and 12, (15.3%) of these women, respectively. There were 17(21.7%) maternal deaths. Fourteen (17.9%) of these 78 women had preterm deliveries and 19 (24.3%) neonates were admitted to neonatal intensive care unit. Nineteen (24.3%) women gave birth to low birth weight babies. There were seven (8.9%) perinatal deaths. Eight (10.2%) patients delivered by caesarean section due to various obstetrical indications.</p> <p>Conclusion</p> <p>Thus dengue has poor maternal and perinatal outcomes in this setting. Preventive measures against dengue should be employed in the region, and more research on dengue during pregnancy is needed.</p

Nano-mechanical properties of Fe-Mn-Al-C lightweight steels

High Al Low-density steels could have a transformative effect on the light-weighting of steel structures for transportation and achieving the desired properties with the minimum amount of Ni is of great interest from an economic perspective. In this study, the mechanical properties of two duplex low-density steels, Fe-15Mn-10Al-0.8C-5Ni and Fe-15Mn-10Al-0.8C (wt.%) were investigated through nano-indentation and simulation through utilization of ab initio formalisms in Density Functional Theory (DFT) in order to establish the hardness resulting from two critical structural features (ߢ-carbides and B2 intermetallic) as a function of annealing temperature (500 − 1050 ℃) and the addition of Ni. In the Ni-free sample, the calculated elastic properties of kappa-carbides were compared with those of the B2 intermetallic Fe3Al − L12, and the role of Mn in the kappa structure and its elastic properties were studied. The Ni-containing samples were found to have a higher hardness due to the B2 phase composition being NiAl rather than FeAl, with Ni-Al bonds reported to be stronger than the Fe-Al bonds. In both samples, at temperatures of 900 ℃ and above, the ferrite phase contained nano-sized discs of B2 phase, wherein the Ni-containing samples exhibited higher hardness, attributed again to the stronger Ni-Al bonds in the B2 phase. At 700 ℃ and below, the nano-sized B2 discs were replaced by micrometre sized needles of kappa in the Ni-free sample resulting in a lowering of the hardness. In the Ni-containing sample, the entire alpha phase was replaced by B2 stringers, which had a lower hardness than the Ni-Al nano-discs due to a lower Ni content in B2 stringer bands formed at 700 ℃ and below. In addition, the hardness of needle-like kappa-carbides formed in alpha phase was found to be a function of Mn content. Although it was impossible to measure the hardness of cuboid kappa particles in gamma phase because of their nano-size, the hardness value of composite phases, e.g. gamma + kappa was measured and reported. All the hardness values were compared and rationalized by bonding energy between different atoms

Stage-I osteochondritis dissecans versus normal variants of ossification in the knee in children

Background: Juvenile osteochondritis dissecans (OCD) has a better prognosis than the adult type. Objective : We postulated that the excellent prognosis of juvenile OCD could be explained, at least in part, by the erroneous diagnosis of some developmental variants of ossification as stage-I OCD. Materials and methods : Knee MRIs of 38 children, ages 7.5–17.7 years (mean and median age 13 years), were retrospectively reviewed to look for features that might separate normal variants of ossification from stage-I OCD. These included age, gender, site, configuration of the lesion, residual cartilaginous model and presence of edema. Results : Twenty-three patients (32 condyles) had ossification defects with intact articular cartilage suggestive of stage-I lesions. No stage-II lesions were seen in the posterior femoral condyles. Accessory ossification centers were seen in 11/16 posterior condyles and 3/16 central condyles. Spiculation of existing ossification was seen in 12/16 posterior condylar lesions and 1/16 central condyles. There was a predominance of accessory ossifications and spiculations in the patients with 10% or greater residual cartilaginous model. No edema signal greater than diaphyseal red-marrow signal was seen in the posterior condyles. Clinical follow-up ranged from 0.5 to 38 months, with clinical improvement in 22 out of 23 patients. Conclusion : Inclusion of normal variants in the stage-I OCD category might explain, in part, the marked difference in published outcome between the juvenile and adult forms of OCD. Ossification defects in the posterior femoral condyles with intact overlying articular cartilage, accessory ossification centers, spiculation, residual cartilaginous model, and lack of bone-marrow edema are features of developmental variants rather than OCD.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46719/1/247_2005_Article_1507.pd

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

Can environmental or occupational hazards alter the sex ratio at birth? A systematic review

More than 100 studies have examined whether environmental or occupational exposures of parents affect the sex ratio of their offspring at birth. For this review, we searched Medline and Web of Science using the terms ‘sex ratio at birth’ and ‘sex ratio and exposure’ for all dates, and reviewed bibliographies of relevant studies to find additional articles. This review focuses on exposures that have been the subject of at least four studies including polychlorinated biphenyls (PCBs), dioxins, pesticides, lead and other metals, radiation, boron, and g-forces. For paternal exposures, only dioxins and PCBs were consistently associated with sex ratios higher or lower than the expected 1.06. Dioxins were associated with a decreased proportion of male births, whereas PCBs were associated with an increased proportion of male births. There was limited evidence for a decrease in the proportion of male births after paternal exposure to DBCP, lead, methylmercury, non-ionizing radiation, ionizing radiation treatment for childhood cancer, boron, or g-forces. Few studies have found higher or lower sex ratios associated with maternal exposures. Studies in humans and animals have found a reduction in the number of male births associated with lower male fertility, but the mechanism by which environmental hazards might change the sex ratio has not yet been established

Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

\ua9 2023, This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply. Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Prevalence and risk factors for early chronic allograft nephropathy in a live related renal transplant program

Background: Chronic allograft nephropathy (CAN) is a common cause of delayed allograft failure throughout the world. Its prevalence and risk factors vary depending on a number of factors. There is little information on the prevalence and risk factors for early CAN in live related renal transplant patients. Objectives: We aimed to determine the prevalence and the risk factors of early CAN in our setup. Patients and Methods: The study was conducted at Sindh Institute of Urology & Transplantation (SIUT), Karachi, from 2002 to 2005 on patients who had live related kidney transplantation and underwent at least one allograft biopsy within 18 months of transplantation. The biopsies were performed and prepared in accordance with established indications and guidelines. The Banff 97 classification and its updates were used to diagnose and categorize the biopsy pathology. Patients were divided into two groups depending on the presence or absence of CAN on biopsies. Following parameters were compared among the groups: age, sex, human leukocyte antigen (HLA) match, immunosuppression used, acute rejection (AR) episodes, urinary tract infections (UTIs), viral infections, cyclosporine levels, early and late graft function monitored by serum creatinine. Results: A total of 164 patients fulfilled the study inclusion criteria. The mean age of recipients and donors was relatively young. The majority of the donors were siblings. The overall prevalence of CAN was 25.6% (42/164), between 3 and 18 months post transplantation. The median time to the appearance of CAN was 9 months post-transplant. The prevalence of CAN increased as post-transplant duration increased. In 39 (92.8%) subjects, CAN was detected on the second or subsequent graft biopsy. Only 3 (7.2%) patients showed CAN on the first graft biopsy. The majority of cases belonged to moderate degree or grade II CAN. The mean serum creatinine values were higher in the CAN group at the time of discharge and all times post-transplantation. Conclusions: In conclusion, the results show that serum creatinine at the time of discharge is a useful predictor of later development of chronic changes in the allograft. Further studies are needed to identify the risk factors for the early development of chronic changes in living related renal transplant program

A clinical tool to predict low serum selenium in patients with worsening heart failure

Selenium is an essential micronutrient, and a low selenium concentration (80% of patients with low selenium (sensitivity of 44%, specificity of 80%). Given that selenium and iron overlap in their physiological roles, we evaluated the shared determinants and prognostic associates. Both deficiencies shared similar clinical characteristics, including the model risk factors and, in addition, a low protein intake and high levels of C-reactive protein. Low selenium was associated with a similar or worse prognosis compared to iron deficiency. In conclusion, although it is difficult to exclude low selenium based on clinical characteristics alone, we provide a prediction tool which identifies heart failure patients at higher risk of having a low selenium status