Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella (MMAF). Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement. Mammalian sperm-associated antigen 17 ( SPAG17 ) encodes a conserved axonemal protein of cilia and flagella, forming part of the C1a projection of the central apparatus, with functions related to ciliary/flagellar motility, skeletal growth, and male fertility. This study investigated two novel homozygous SPAG17 mutations (M1: NM_206996.2, c.829+1G>T, p.Asp212_Glu276del; and M2: c.2120del, p.Leu707*) identified in four infertile patients from two consanguineous Pakistani families. These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa. Quantitative real-time polymerase chain reaction (PCR) of patients' spermatozoa also revealed a significant decrease in SPAG17 mRNA expression, and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella. However, no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients. Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls. Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17 (SPATA17), a component of the C1a projection, and sperm-associated antigen 6 (SPAG6), a marker of the spring layer, revealed disrupted expression of both proteins in the patients' spermatozoa. Altogether, these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme, expanding the phenotypic spectrum of SPAG17 mutations in humans.
Humans ; Male ; Infertility, Male/pathology* ; Sperm Tail/ultrastructure* ; Homozygote ; Microtubule-Associated Proteins/genetics* ; Axoneme/genetics* ; Spermatozoa/ultrastructure* ; Adult ; Mutation ; Sperm Motility/genetics* ; Pedigree ; Microtubules ; Microtubule Proteins/genetics*

Rotator cuff tears commonly cause shoulder pain and functional impairment, prompting surgical intervention such as miniopen and arthroscopic methods, each with distinct benefits. This study aimed to compare the clinical outcomes and complications of these two approaches. Methods: A retrospective analysis was conducted on 165 patients who underwent rotator cuff repair using either arthroscopic-assisted mini-open or full arthroscopic approaches. Patient demographics, tear characteristics, clinical outcomes, and complications were assessed, with statistical analyses conducted to discern differences between the groups. Results: Among the patients, 74 (53.2%) received the mini-open approach, while 65 (46.8%) underwent arthroscopic repair, with a mean follow-up of 19.91 months. The mini-open group exhibited significantly higher postoperative American Shoulder and Elbow Surgeons (ASES) scores compared to the arthroscopic group (P=0.002). Additionally, the mini-open group demonstrated a more significant improvement in ASES scores from preoperative to postoperative assessments (P=0.001). However, the arthroscopic method had a significantly longer operative time (P<0.001). Complications, including anchor placement issues, frozen shoulder, infection, and re-rupture, occurred in 17.3% of patients overall. Re-rupture rates were 13.5% for mini-open and 6.2% for full arthroscopic repair, with no significant difference between the two methods (P=0.317). Conclusions: Both the mini-open and arthroscopic methods yielded favorable clinical outcomes for rotator cuff tear treatment, but the mini-open group exhibited superior results. Surgeons should consider patient characteristics, tear attributes, and surgical expertise when selecting the appropriate technique. Level of evidence: III.

Objective: The primary purpose of this study was to determine mortality rates and durations, survival status, and predictive prognosis parameters based on vital signs, hematology, and blood gas analyses in neonatal diarrheic calves. Methods: The hospital automation system retrospectively obtained data from 89 neonatal diarrheic calves. Results: It was found that 42.7% (38/89) of the calves brought with the complaint of diarrhea died during hospitalization or after discharge. Short-term and long-term fatalities were a median of 9.25 hours and a median of 51.50 hours, respectively. When the data obtained from this study is evaluated, body temperature (°C), pH, base excess (mmol/L), and sodium bicarbonate (mmol/L) parameters were found to be lower, and hemoglobin (g/ dL), hematocrit (%), lactate (mmol/L), chloride (mmol/L), sodium (mmol/L) and anion gap (mmol/L) parameters were found to be higher in dead calves compared to survivors.Accordingly, hypothermia, metabolic acidosis, and dehydration findings were seen as clinical conditions that should be considered. Logistic regression analysis showed that lactate (odds ratio, 1.429) and CI − (odds ratio, 1.232) concentration were significant risk factors associated with death in calves with diarrhea. Conclusions and Relevance: According to the findings obtained from this study, the determination of lactate and Cl − levels can be used as an adjunctive supplementary test in distinguishing calves with diarrhea with a good prognosis.

Low-grade malignant eccrine spiradenoma (spiradenocarcinoma) is a rare sweat gland tumor, which usually arises from a pre- existing benign eccrine spiradenoma. This paper presents the case of a 55-year-old male who had a lesion in his right elbow for 10 years. The microscopic examination revealed a well-demarcated, multilobulated tumor in the dermis and subcutis, which presented with many blood-filled vessels and extensive hemorrhage.The tumor was composed of hyperchromatic, round to oval cells with nucleolar prominence, mild to moderate atypia, and increased mitotic index. Additionally, lymphangiectatic appearance was observed in areas with prominent stromal lymphedema. P53 and Ki-67 had high positivity. Surgical excision of the lesion was performed with adequate surgical margins, and the dissected lymph nodes in the axilla were tumor-negative. After 15 months of follow-up, there was no recurrence or distant metastasis.

: The subaxial cervical pedicle screwing technique shows powerful biomechanical properties for posterior cervical fusion. When applying a pedicle screw using the freehand technique, it is essential to analyse cervical computed tomography and plan the surgery accordingly. Normal cervical computed tomography is usually performed in the supine position, whereas during surgery, the patient lies in a prone position. This fact leads us to suppose that radiological evaluations may yield misleading results. Our study aimed to investigate whether there is any superiority between preoperative preparation on computed tomography performed in the prone position and that performed in the supine position. Methods : This study included 17 patients (132 pedicle screws) who were recently operated on with cervical vertebral computed tomography in the prone position and 17 patients (136 pedicle screws) who were operated on by conventional cervical vertebral computed tomography as the control group. The patients in both groups were compared in terms of age, gender, pathological diagnosis, screw malposition and complications. A screw malposition evaluation was made according to the Gertzbein-Robbins scale. Results : No statistically significant difference was observed between the two groups regarding age, gender and pathological diagnosis. The screw malposition rate (from 11.1% to 6.9%, p<0.05), mean malposition distance (from 2.18 mm to 1.86 mm, p <0.05), and complications statistically significantly decreased in the prone position computed tomography group. Conclusion : Preoperative surgical planning by performing cervical vertebral computed tomography in the prone position reduces screw malposition and complications. Our surgical success increased with a simple modification that can be applied by all clinicians without creating additional radiation exposure or additional costs.

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g., CFAP43, CFAP44, CFAP65, CFAP69, CFAP70, and CFAP251) responsible for the MMAF phenotype in infertile men from different ethnic groups. However, none of them have been identified in infertile Pakistani males with MMAF. In the current study, two Pakistani families with MMAF patients were recruited. Whole-exome sequencing (WES) of patients and their parents was performed. WES analysis reflected novel biallelic loss-of-function mutations in CFAP43 in both families (Family 1: ENST00000357060.3, p.Arg300Lysfs*22 and p.Thr526Serfs*43 in a compound heterozygous state; Family 2: ENST00000357060.3, p.Thr526Serfs*43 in a homozygous state). Sanger sequencing further confirmed that these mutations were segregated recessively in the families with the MMAF phenotype. Semiquantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) was carried out to detect the effect of the mutation on mRNA of the affected gene. Previous research demonstrated that biallelic loss-of-function mutations in CFAP43 accounted for the majority of all CFAP43-mutant MMAF patients. To the best of our knowledge, this is the first study to report CFAP43 biallelic loss-of-function mutations in a Pakistani population with the MMAF phenotype. This study will help researchers and clinicians to understand the genetic etiology of MMAF better.
Adolescent ; Adult ; Humans ; Infertility, Male/epidemiology* ; Loss of Function Mutation/genetics* ; Male ; Microtubule Proteins/genetics* ; Middle Aged ; Pakistan/epidemiology* ; Sperm Tail/physiology*

Coronavirus disease 2019 (COVID-19) is a recent respiratory infection caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) with serious complications, severe acute respiratory syndrome (ARDS), cytokine storm, and coagulopathies. Complete blood count (CBC) is a routine inexpensive and easy test that provides information regarding formed blood content such as white blood cells (WBC), platelet, neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR) and lymphocyte-monocyte ratio (LMR) to detect degree of inflammation. This study attempts to assess, at an early phase of the disease, the prognosis of COVID-19 patients and predict high risk patients who will most probably develop ARDS and cytokine storm by analyzing blood cells count. This study is a single-center case series on COVID‐19 patients who were prospectively analyzed at Al-Furat General Hospital in Baghdad from March to August 2020. Up to 123 Covid-19 patients in two groups, 100 who survived versus 23 who did not survive were included. Patients with abnormal renal and hepatic tests were excluded. Results revealed that the median age of patients was 40 years, ranging from 2-84 years of age. Males (61.8%) were more affected by COVID-19 than females (38.2%). Survived patients exhibited far lowered WBC count (6.06±3.17) than non-survived patients (11.4±6.08; p<0.0001). Lymphocyte count in survived patients (1.6±1.1) were higher than non-survived patients (1.1±0.4; p<0.004). Neutrophils showed lower count (3.7±2.7) in survived patients than non-survived patients (8.9±4.5). Also, receiver operator characteristic (ROC) analysis for NLR, LMR and PLR revealed a cut off value for abnormally high or low NLR >5, LMR ≤1.8, and PLR >176 with area under curve (AUC) 0.9, 0.8, and 0.6, respectively. These cut off values represent landmarks above or below which poor prognosis and non-survival is highly predicted. NLR was found to be the most prognostic index to detect bad prognosis and non-survival of the disease at 90% sensitivity, followed by LMR and then PLR. The percentage of non-survived patients who had abnormally high NLR (82.6%), LMR (65.2%) and PLR (56.5%) were far higher than survived patients (NLR: 9%; LMR: 8%; PLR: 22%).
COVID-19

Objectives Blood stream infections (BSIs) are the main cause of morbidity and mortality in children worldwide. The present study was carried out to determine the prevalence of BSI with a focus on the identification of the causative agent of BSI, and to further evaluate the antibiotic susceptibility profile of the causing bacterial pathogens.Methods A cross-section study was carried out at the tertiary care hospital in Peshawar, Pakistan from January to December, 2018. Blood samples were collected in BACTEC

Excessive production of reactive oxygen species (ROS) and endoplasmic reticulum (ER) stress-mediated responses are critical to embryonic development in the challenging in vitro environment. ROS production increases during early embryonic development with the increase in protein requirements for cell survival and growth. The ER is a multifunctional cellular organelle responsible for protein folding, modification, and cellular homeostasis. ER stress is activated by a variety of factors including ROS. Such stress leads to activation of the adaptive unfolded protein response (UPR), which restores homeostasis. However, chronic stress can exceed the toleration level of the ER, resulting in cellular apoptosis. In this review, we briefly describe the generation and impact of ROS in preimplantation embryo development, the ROS-mediated activation mechanism of the UPR via the ER, and the subsequent activation of signaling pathways following ER stress in preimplantation embryos.
Apoptosis ; Blastocyst* ; Cell Survival ; Embryonic Development ; Endoplasmic Reticulum ; Female ; Homeostasis ; In Vitro Techniques ; Organelles ; Oxygen* ; Pregnancy ; Protein Folding ; Reactive Oxygen Species ; Unfolded Protein Response*