bluuebunny/crossref_metadata_2025_split huggingface dataset:
Targeting PknL as a novel therapeutic strategy against Mycobacterium tuberculosis
Authors: Krishnakumar Vaithilingam , Munisamy Suthandhira , Pandiyan Rajesh , Velu Rajesh Kannan , Periasamy Panneerselvam 
Published: August 2024

Abstract:

INTRODUCTION:
The bacterium “Mycobacterium tuberculosis (MTB)” causes tuberculosis, which is currently regarded as the most common cause of bacterial infection-related death globally. In addition to eukaryotes, MTB also encodes 11 “serine/threonine protein kinases (STPKs),” including PknA, B, C, D, E, F, G, H, J, K, and L that control cell division, cell development, metabolism, and dormancy.

MATERIALS AND METHODS:
The antisense and sense-orientated PknL have been cloned utilizing the shuttle mycobacterial vector-pAZI9018b, which is IPTG inducible. Utilizing the appropriate primers, the PknL (Rv2176) full-length gene from MTB has been amplified. The product which was amplified was then inoculated inside the vector at the “5’BamH1 and 3’Nde1” regions to produce PknL in the sense orientation (PknL-S) resembling PknL-S, and likewise, amplified substance was introduced into the vector at the 3’BamHI and 5’NdeI sites for producing PknL in the antisense orientation (PknL-AS).

RESULTS:
Regardless of the absence or presence of an inducer, PknL-AS had lower transcription levels than Wild type and PknL-S, but PknL-AS revealed a significant decrease in PknL expression during the end of 2nd week with 1 mM of IPTG and a further decrease on day 10 with 10 mM IPTG. In the presence of 10 mM IPTG, PknL expression has been close to, 1.8 log in Wild type, 1.4 log in PknL-AS, and 2.4 log in PknL-S.

CONCLUSION:
It has been clear that PknL may read environmental cues and respond appropriately, assisting bacteria to adapt to stressful situations in the host by lowering bacterial development, leading to a dormant state, and allowing bacteria to stay inside the host.
Neutrophil-to-lymphocyte ratio to improve the diagnostic performance of appendicitis inflammatory score and modified Alvarado score
Authors: Bansal Gagan , Dudani Sharmila 
Published: August 2024

Abstract:

BACKGROUND:
Acute appendicitis is a surgical emergency often encountered in clinical practice. Diagnosis is usually based on clinical judgment supplemented with a few baseline investigations. Neutrophil-to-lymphocyte ratio (NLR) is a novel, stable inflammatory marker reflecting the inflammatory status, superior to individual leukocyte parameters.

OBJECTIVES:
We aimed to study the introduction of NLR as an additional parameter in the appendicitis inflammatory score and modified the Alvarado score to improve the sensitivity and specificity in the diagnosis of acute appendicitis.

MATERIALS AND METHODS:
This was a retrospective study of clinical and laboratory data of 101 consecutive patients above the age of 18 years with a sudden onset of nontraumatic abdominal pain and a provisional clinical diagnosis of uncomplicated acute appendicitis, subsequently undergoing appendectomy. Findings on histopathological examination of the resected appendix were considered the gold standard. The NLR was calculated from the hemogram parameters for all patients. The receiver operating characteristic (ROC) curve was used to determine the threshold score levels and the performance characteristics of scoring systems.

RESULTS:
The median age was 27 (12.50) years, with male predominance (77.2%). The appendicitis inflammatory response (AIR) score, modified Alvarado score, and the NLR were all significantly higher among patients with histopathologically confirmed appendicitis (P < 0.01). A new score developed by combining the NLR with the AIR score outperformed both the modified Alvarado score and the original AIR score, as evident by significant increase in the area under the ROC curve. NLR is a useful parameter, and its addition to the AIR score can help guide clinical management.

CONCLUSION:
The addition of NLR in AIR score can help in clinical management of appendicitis.
Phenotypic and Genotypic Spectrum of Children with Autosomal Recessive Hyperimmunoglobulin E Syndrome Caused by DOCK8 Mutation: A Systematic Review of Case Reports
Authors: Sampath Ananyan , Yadav Hemant , Juluri Sanjuna , Bhat Girish Chandra , Yadav Yogendra Singh 
Published: August 2024

Background:
Hyperimmunoglobulin E (IgE) syndrome (HIES) is a rare primary immunodeficiency disease, with features of recurrent eczema-like rashes, skin and lung infections, and elevated serum IgE. Common genetic mutations involve STAT3 and DOCK8 in autosomal dominant and recessive types, respectively.

Objectives:
Here, we aimed to systematically review all previously published case reports/series describing the clinical features, laboratory findings, and genetic analyses of children with autosomal recessive HIES (AR-HIES) caused by DOCK8 immunodeficiency.

Methods:
A comprehensive search was done in PubMed and Google Scholar, using defined search terms encompassing case reports or case series on AR-HIES. The identified reports underwent screening by different authors for inclusion and exclusion criteria.

Results:
A review of 50 articles covering 203 patients with DOCK8 immunodeficiency syndrome was done. Most cases were reported in countries such as Turkey, the USA, and Iran, with no significant gender disparity (92 males: 111 females). Patients exhibited a broad age range and early disease onset, with consanguinity present in 82% of cases. The most common clinical features included eczema (99%), allergic manifestations (93%), and respiratory infections (91%), associated with high IgE levels and eosinophilia. Exonic deletions were the most common mutations.

Conclusion:
This is one of the largest reviews collating data on DOCK8 deficiency, leading to AR-HIES. Exonic deletions were the most common mutations, with eczema and allergy being the most consistent clinical features.
Right-sided Thyroid Hemiagenesis in a Male Newborn with Congenital Hypothyroidism: A Case Report with Review of Literature
Authors: Kar Shrutiprajna , Mishra Purbasha , Sahoo Tanushree , Devi Usha 
Published: August 2024

Background:
Thyroid hemiagenesis (THA) is a rare aberration in the development of the thyroid gland, denoted by the absence of either thyroid lobe with or without the isthmus, common in females, predominantly involving left lobe of thyroid, usually maintaining a euthyroid state.

Clinical Description:
A premature male baby born at 34 weeks gestation with birth weight 1100 g was admitted in the neonatal intensive care unit (NICU) for respiratory distress soon after birth. The antenatal period was uneventful and maternal thyroid status was within normal limits.

Management and Outcome:
While the newborn was being stabilized in NICU, the results of routine cord blood screening revealed raised thyroid-stimulating hormone levels, following which an ultrasound examination showed right THA, confirmed further by technetium-99 radionuclide scan. Thyroxine was initiated for persistent hyperthyrotropinemia. The baby was eventually discharged and was doing well till 6 months of follow-up.

Conclusion:
Unlike the common scenario published in literature, our case of THA was seen in a male newborn, involving the right lobe of the thyroid along with a hypothyroid state. As THA is a state of continuous overstimulation of thyroid tissue, newborn screening and detection of this abnormality at this early age is important.
Internal Jugular Vein Phlebectasia with Situs Inversus Totalis: A Rare Association in a Child
Authors: Inamdar Nusrat Rahim , Mauskar Anupama , Mehra Manam Ravi , Pudami Chennakesava 
Published: August 2024

Background:
Phlebectasia is a term used for the dilatation of a vein without tortuosity. Rarely, the condition may affect the internal jugular vein (IJV), causing prominence in the neck, which may be confused with other neck swellings.

Clinical Description:
A 6-year-old boy presented with bilateral episodic swelling in the neck noticed since 2 years of age and a hoarse voice since 3 years of age. On examination, the neck swelling was soft, cystic, compressible, nontender, and nonpulsatile, increasing in size by all maneuvers increasing intrathoracic pressure. Systemic examination revealed the apex beat was on the right side, and the liver was palpable below the left subcostal margin.

Management and Outcome:
The workup for tuberculosis was negative, and direct laryngoscopy was normal. X-ray of the chest with abdomen showed dextrocardia and stomach shadow on the right side. Color Doppler revealed nontortuous dilatation of both IJVs. Dynamic computed tomography venography confirmed the diagnosis of bilateral IJV phlebectasia (IJVP). The child was started on speech therapy. The mother was counseled regarding the benign nature of the disease and advised regular follow-up. The child had no complications, and his voice improved with speech therapy at 1-year follow-up.

Conclusion:
Pediatricians should be aware that IJVP may rarely be the cause of neck swelling associated with hoarseness of voice. Increase in the size of the swelling with Valsalva maneuvers and color Doppler ultrasound helps to confirm the diagnosis.
Lobar Emphysema Successfully Operated in an Extreme Premature Neonate
Authors: Bukelo Mario Joseph , Adavalath Shreya , Rao Sadashiva 
Published: August 2024

Background:
Lobar emphysema in a newborn may be due to a rare congenital developmental anomaly of the lung, termed congenital lobar emphysema (CLE) or may develop secondary to lung damage, especially with positive airway pressures in premature newborns, known as acquired lobar emphysema (LE). They may have overlapping clinical and radiological features. However, surgical lobectomy is required whenever there is significant respiratory compromise. Reports of surgery in LE in extreme preterms are sparse.

Clinical Description:
A female newborn with gestational age of 28 weeks, weight of 1.180 kg, presented with respiratory distress after birth, initially treated as hyaline membrane disease. With worsening respiratory distress on positive airway pressures, repeat chest X-ray and computed tomography (CT) chest on day 15 of life, suggested possible LE on the left side with the tracheo-mediastinal shift to the right.

Management and Outcome:
Left thoracotomy and left upper lobectomy was done, following which, there was rapid improvement in respiratory distress, the newborn being extubated after 6 hours, and weaned off oxygen over the next 3 days. The baby was discharged after 8 weeks and at the last follow-up of 3 years of age, the child was growing well with no complications.

Conclusion:
Preterm neonates with initial radiological features of hyaline membrane disease, requiring prolonged respiratory support, may be harboring other underlying lung anomalies, which are identified by CT chest. Lobar emphysema with tracheo-mediastinal shift warrants prompt surgery, which is feasible and successful, even in a low birth-weight premature infant.
Gamut of urological diseases in a tertiary hospital in North Central Nigeria
Authors: Oyibo Ugbede Emmanuel , Onwukwe John C 
Published: August 2024

Abstract

Context:
Worldwide, urological disorders vary from one topography to another. An in-depth understanding of their distribution in each region could serve as a basis for the distribution of manpower, equipment’s alongside determine policy formulation and training.

Aims:
This study enumerates the annual frequency and distribution of urological disorders at the Federal Medical Centre, Keffi.

Settings and Design:
A cross-sectional retrospective study from November 2021 to November 2022 of all new patients who attended the urology outpatient clinic, emergency department as well as those who had surgical interventions at the Federal Medical Centre, Keffi, Nasarawa State.

Materials and Methods:
The pertinent records were extracted from the patient’s electronic medical records (EMR) and entered into a semistructured questionnaire.

Statistical Analysis Used:
Data were analyzed using the SPSS software version 20.

Results:
A total of 452 new patients were seen over the study period. There were 428 (94.5%) males and 24 (5.3%) females, with a male-to-female ratio of 17.8:1. The median age was 58 years, with the age range of 2–97 years. Urological emergencies were seen in 13.5% patients. Ninety-eight percent of cases were acquired, whereas 1.8% were of congenital etiology. Overall, the most commonly diagnosed urologic diseases among new patients in order of decreasing frequency were benign prostatic enlargement (BPE) (54.7%), urethral stricture disease (11.0%), upper tract urinary calculi (6.3%), prostate adenocarcinoma (5.9%), and male infertility (4.3%).

Conclusions:
BPE, urethral stricture disease, upper tract urinary calculi, prostate adenocarcinoma, and male infertility are common in our environment. An understanding of the urological disease distribution will enhance policy-making and drive manpower needs inspiring core areas of subspecialization with a view at improving the standard of urological care and promoting collaboration with international organizations and funding agencies.
Burn care at the National Orthopaedic Hospital, Enugu: A comparison of two 5-year periods: January 2012–December 2016 and January 2017–December 2021
Authors: Onah Ifeanyichukwu Igwilo , Okoli Chinedu Michael 
Published: August 2024

Abstract

Background and Objectives:
The survival rate of patients with burn injuries has increased remarkably owing to the advancements in burn management which has resulted in improved survival rates, shorter hospital stays and decreases in morbidity and mortality rates due to the development of fluid resuscitation protocols, improved respiratory support, infection control etc. This study compares the parameters of burn patients admitted in a tertiary hospital from January 2012 to December 2016 and January 2017 to December 2021.

Materials and Methods:
This study was at the National Orthopaedic Hospital Enugu, NOHE. It was a retrospective study of patients who presented with burn injuries to the burn unit between the period of January 2012 and December 2021.

Results:
A total of 771 cases were analysed. Three hundred and twenty-three were seen between January 2012 to December 2016, 448 were seen between January 2017 and December 2021. Flame remained the major cause of burn injuries with 62% occurring in the first 5-year period while 72% occurred in the second 5 years. Adults had more injuries from flames than children, while children had more scald injuries than adults. The highest percentage of Total Burn Surface Area (TBSA) salvaged was 79% in the first 5-year period while 86% was salvaged in the second. Mortality rate in the first and second 5-year periods were 12% and 19%, respectively.

Conclusions:
Flame burn injuries are the most common cause of burn injuries in adults and children. Mortality was lower in the first 5-year period. A higher TBSA was salvaged in the second 5-year period.
Massive small bowel enterolith in post cystoprostatectomy ileal cul-de-sac : A unique presentation of a rare clinical condition
Authors: Sarkar Pallab Kumar , Karanjia Rustam , Akhtar Mansoor , Streeter Edward 
Published: August 2024

Abstract
Enterolithiasis or formation of gastrointestinal concretions is an unusual medical entity that typically occurs in patients suffering from persistent intestinal stasis. We present a rare case of non-obstructive enterolith wedged in the blind end of bowel reconstruction following cystoprostatectomy and ileal conduit formation due to muscle-invasive bladder cancer. Although we watched it grow over the years, radiological characterisation was made possible when it grew to a significant size. We, herein, will discuss the aetiology and complexities associated with the diagnosis and management of such orphan cases given their non-specific clinical presentations in an already hostile abdomen due to multiple laparotomies.
The prevalence and management outcomes of diverticular disease in a tertiary facility in Ghana
Authors: Taah-Amoako Philip , Bediako-Bowan Antoinette Afua Asiedua , Dakubo Jonathan C. Balea 
Published: August 2024

Abstract

Background:
Diverticular disease of the colon, previously believed to be rare among Africans, is now an emerging disease entity in many African countries. The increasing morbidity and varied presentations are associated with this.

Objectives:
To determine the prevalence of diverticular disease among patients who underwent lower gastrointestinal endoscopies over a 5-year period and evaluate the common presentations, interventions, and treatment outcomes at the Korle-Bu Teaching Hospital (KBTH), Ghana.

Materials and Methods:
This was a retrospective cross-sectional study of patients who underwent either a colonoscopy or proctosigmoidoscopy between January 2017 and December 2021, at the KBTH. The records of patients admitted for complications of diverticular disease over the same period were also reviewed.

Results:
A total of 4266 patients underwent lower gastrointestinal endoscopy over the study period. Out of this, 380 were diagnosed with diverticular disease giving a prevalence of 8.91%. This comprised 58.95% male and 41.05% female. Their mean age was 67.02 (standard deviation ± 11.45). The age ranged from 26 to 95 years with a median of 67. Sixty-seven patients with 88 episodes of admission were managed for complications. The average age was 69.26 (SD ± 13.28) and ranged from 40 to 98 years with an interquartile range of 20 years. Complications were predominantly bleeding diverticular disease (94.32%), whereas 5.6% presented with diverticulitis. Ninety percent were managed conservatively, and 10% had surgical intervention.

Conclusion:
This study concludes that the prevalence of diverticular disease among Ghanaians undergoing lower gastrointestinal endoscopy is still low and bleeding is the commonest indication for admission which is mostly managed conservatively.
Comparison of choroidal thickness in healthy pregnant and preeclamptic women in a tertiary eye care center in Central India: A cross-sectional study
Authors: Dhabarde Kavita A. , Rathod Sayali S. , Chaurasia Snehal Sandeep Bonde , Iyer Vandana A. , Joshi Rajesh S. 
Published: August 2024

Aim:
To compare the Subfoveal Choroidal Thickness (SFCT) measured by Enhanced Depth Imaging (EDI) technique of Spectral Domain Optical Coherence Tomography (SD-OCT) in healthy pregnant and preeclamptic women.

Methods:
Our study was cross-sectional hospital-based study in which healthy pregnant women and women having preeclampsia were selected from Obstetrics and Gynecology department and enrolled in it. The guidelines of the American College of Obstetricians and Gynecologists were used to diagnose the cases of preeclampsia. The study included 100 women (200 eyes) which were grouped into 50 healthy pregnant women (group 1), i.e., n = 100 eyes and 50 preeclamptic women (group 2), i.e., n = 100 eyes. SFCT was measured using the EDI technique of SD-OCT and data were entered in a Microsoft Excel sheet. Statistical analysis was done using Epi Info. Software version 7.2.1.0 (Atlanta, Georgia, US) and the results of both the groups were compared.

Results:
The mean SFCT in both the eyes of the healthy pregnant group and the preeclamptic group was 318.12 ± 37.12 µm and 209.04 ± 26.73 µm, respectively, with a P-value 0.001 showing a statistically significant difference between both the groups.

Conclusion:
The SFCT is significantly decreased in preeclamptic pregnant women than in healthy pregnant women.
Prevalence and causes of ocular morbidity among school children in urban and rural areas
Authors: Dubey Renu Shukla , Muduthanapally Charani , Navatha Kyatha , Das Sangeeta 
Published: August 2024

Background:
Poor vision impairs the performance of school children and has a negative impact on their future. The prevalence of blindness in school children is estimated to be 0.8/1000 in the age group of 0–15 years. Most children with an uncorrected refractive error are asymptomatic; hence, periodic visual screening and primary eye care reduce the prevalence of refractive error and ocular morbidity.

Objective:
To study the prevalence of ocular morbidity among school children in urban and rural areas.

Methods:
Cross-sectional study was conducted in two randomly selected private schools in urban area and two randomly selected government schools in rural area among school children aged 6–15 years studying in standards I–X. They were selected from each class by systematic random sampling. Detailed history and ocular examination were carried out for all children.

Results:
The prevalence of ocular morbidity among study participants was high (20.3%). The major cause of ocular morbidity was refractive error in 17.4% of the cases. Age group of 5–7 years, being urban school child, illiterate parents were significantly associated with ocular morbidity (P < 0.05). Gender and religion were not associated with ocular morbidity. The most common ocular morbidity was refractive error (17.4%). Color blindness (1.5%), conjunctivitis (1.3%), and stye and chalazion (1.1%) were other ocular morbidities.

Conclusion:
Most cases of ocular morbidity were preventable or treatable if detected early. Hence, strategies including prevention at the primary and secondary level form core of any strategies to reduce ocular morbidities in school going children.
Ocular toxicity of daily anti-tubercular treatment regimen: A prospective observational study
Authors: Arun K. T. Sreelakshmi , Kumar Praveena S. , Rajan Ann R. , Mathai Monsy T. , Kakkanat C. V. Andrews , Adiody Supriya B. 
Published: August 2024

Context:
India carries a significant burden of TB which is the commonest cause of infectious disease-related mortality. Anti-tubercular drugs can cause serious ocular toxic effects. Optical coherence tomography (OCT) can be used as a valuable tool in the quantitative analysis of anti-tubercular treatment (ATT)-induced toxic optic neuropathy.

Aims:
To study the changes in visual parameters in patients on ATT and to analyze the OCT changes in patients by taking measurements once before initiation of treatment and once during ongoing treatment (between three and six months).

Settings and Design:
Tertiary care center, Prospective observational study.

Methods and Material:
A prospective observational study was conducted in 140 eyes of 70 subjects undergoing ATT as per the latest RNTCP guidelines where the following determinants were examined, and the corresponding values were taken once before initiation of treatment and once during ongoing treatment (between three and six months) and results were analyzed. Around 90% of the subjects were examined at the end fourth month. Visual acuity was taken using the Log Mar chart, color vision using Ishihara’s chart, and slit lamp examination and fundus evaluation using a 90 D lens. OCT was done and average nasal, temporal, superior, and inferior quadrant retinal nerve fiber layer (RNFL) measurements were taken. Perimetry was also done; however, findings were not included in this study.

Statistical Analysis Used:
Frequency and percentage were applied to study the changes in visual parameters in patients on ATT. A paired t-test was applied for numerical variables to analyze the OCT changes in patients undergoing ATT. A P value < 0.05 was considered statistically significant.

Results:
Despite a near-normal appearance of the fundus on ophthalmoscopy, OCT clearly demonstrated and quantified the loss of retinal nerve fibers. Statistically significant RNFL thinning (P value < 0.001) was noted in the superior, temporal, and inferior quadrants and least in the nasal quadrant (P = 0.005). Significant deterioration in visual acuity was observed following three months of ATT (P = 0.001). Red-green color vision abnormalities were detected in 14 out of 140 eyes (10%).

Conclusions:
RNFL thickness was reduced on OCT. RNFL thickness quantification and assessment of other visual parameters especially color vision help in the early diagnosis of ocular toxic effects of ATT. Hence, awareness and active screening are imperative in preventing visual impairment and blindness.