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The Journal of Clinical Investigation Jul 2024Type 3 innate lymphoid cells (ILC3s) are key regulators of intestinal homeostasis and epithelial barrier integrity. In this issue of the JCI, Cao and colleagues found...
Type 3 innate lymphoid cells (ILC3s) are key regulators of intestinal homeostasis and epithelial barrier integrity. In this issue of the JCI, Cao and colleagues found that a sensor of endoplasmic reticulum (ER) stress, the inositol-requiring kinase 1α/X-box-binding protein 1 (IRE1α/XBP1) pathway, fine-tuned the functions of ILC3s. Activation of IRE1α and XBP1 in ILC3s limited intestinal inflammation in mice and correlated with the efficacy of ustekinumab, an IL-12/IL-23 blocker, in patients with Crohn's disease. These results advance our understanding in the use of ILCs as biomarkers not only to predict disease outcomes but also to indicate the response to biologicals in patients with inflammatory bowel disease.
Topics: X-Box Binding Protein 1; Animals; Endoribonucleases; Protein Serine-Threonine Kinases; Humans; Mice; Endoplasmic Reticulum Stress; Lymphocytes; Signal Transduction; Crohn Disease; Immunity, Innate; Inflammation
PubMed: 38949019
DOI: 10.1172/JCI182204 -
JPMA. the Journal of the Pakistan... Jun 2024
Topics: Humans; Myasthenia Gravis; Adrenal Cortex Hormones; Glucocorticoids
PubMed: 38949011
DOI: 10.47391/JPMA.10214 -
JPMA. the Journal of the Pakistan... Jun 2024Skeletal scintigraphy has a pivotal role in detecting a number of bone pathologies, but it has its own limitations because of 2D image acquisition. Hybrid imaging acts...
Skeletal scintigraphy has a pivotal role in detecting a number of bone pathologies, but it has its own limitations because of 2D image acquisition. Hybrid imaging acts as a savior in these cases where it is difficult to distinguish between benign and malignant lesions just on the basis of planar images. We present one such case of known breast carcinoma with abnormal increased radiotracer uptake in the skull which was difficult to characterize as benign lesion such as hyperostosis frontalis or metastatic osseous lesion. The importance of describing this case is to have a thorough understanding of hyperostosis patterns and to not confuse it with metastatic deposits in patients with known malignancies.
Topics: Humans; Female; Breast Neoplasms; Diagnosis, Differential; Hyperostosis Frontalis Interna; Single Photon Emission Computed Tomography Computed Tomography; Middle Aged; Bone Neoplasms
PubMed: 38949003
DOI: 10.47391/JPMA.24-48 -
JPMA. the Journal of the Pakistan... Jun 2024Isolated Left Ventricular Non-compaction (LVNC) is a type of cardiomyopathy that usually has a genetic origin. Its diagnosis is based on finding such as deep...
Isolated Left Ventricular Non-compaction (LVNC) is a type of cardiomyopathy that usually has a genetic origin. Its diagnosis is based on finding such as deep intertrabecular recesses or sinusoids and ventricular trabeculations communicating with the left ventricular cavity. LVNC was first clinically recognised almost four decades ago, yet its diagnostic and management challenges persist. In this report, we present the case of an 18-year-old boy, who presented at the National Institute of Cardiovascular Diseases, Karachi, in March 2023, with complaints of dizziness, pedal oedema, and shortness of breath. Echocardiography revealed signs suggestive of LVNC, which were confirmed conclusively on Cardiovascular Magnetic Resonance (CMR) (NC/C ratio>2.4). The patient underwent implantable cardioverter defibrillator (ICD) placement, was discharged after a smooth post-procedure recovery, and is doing well on follow-ups. Hence, ICD and guideline-directed medical therapy as a combination have turned out to have satisfactory outcomes in decreasing morbidity and providing mortality benefits for such patients.
Topics: Humans; Male; Adolescent; Defibrillators, Implantable; Isolated Noncompaction of the Ventricular Myocardium; Echocardiography; Dyspnea; Dizziness
PubMed: 38948997
DOI: 10.47391/JPMA.10034 -
JPMA. the Journal of the Pakistan... Jun 2024Recurrent rhinorrhoea that occurs chronically, needs to consider the possibility of a fistula in the nasal cavity, which has the potential to form a rhinolith. We report...
Recurrent rhinorrhoea that occurs chronically, needs to consider the possibility of a fistula in the nasal cavity, which has the potential to form a rhinolith. We report the case of a 39-year-old man with complaints of recurrent rhinorrhoea since four years ago, accompanied by thick secretions, symptoms of post-nasal drips, and olfactory disturbances. The patient had a history of removing the left upper molar (molar I), which causes a fistula in the tooth extraction site, making it more likely for food and drink to enter the left nasal cavity. Anterior rhinoscopy examination revealed a white mass in the left inferior meatus and a purulent odour discharge. In addition, there were gingival defects of the first molar teeth, multi-sinusitis, and nasal septum deviation. Rinolith extraction was performed using functional endoscopic sinus surgery, submucosal resection, and repair of gingivo-nasal defects with rotational flaps. Follow-up for one week showed that the flap was in place and there were no complications.
Topics: Humans; Male; Adult; Rhinorrhea; Nose Diseases; Chronic Disease; Tooth Extraction; Endoscopy; Oral Fistula; Surgical Flaps
PubMed: 38948996
DOI: 10.47391/JPMA.9784 -
JPMA. the Journal of the Pakistan... Jun 2024Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to...
Congenital eyelid imbrication syndrome (CEIS) is a rare condition presenting at birth and is characterised by overriding of the upper lid on the lower lid. It is due to longer upper lid, than the lower lid. Overriding leads to spontaneous eversion of the upper lids. In our patient, examination revealed canthal tendon laxity and hyperaemia of the tarsal conjunctiva. All the rest of the structures in the eyeball and adnexa were normal. Spontaneous eversion occurred in two weeks as the upper lid grew with time. No treatment was required.
Topics: Humans; Pakistan; Eyelids; Female; Male; Eyelid Diseases; Infant, Newborn
PubMed: 38948995
DOI: 10.47391/JPMA.9457 -
JPMA. the Journal of the Pakistan... Jun 2024Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency disorder with different phenotypes and aetiologies. It is characterised by...
Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency disorder with different phenotypes and aetiologies. It is characterised by hypogammaglobulinaemia, defects in specific antibody response, erroneous activation and proliferation of T cells, leading to increased risk of recurrent infections. In CVID, "Variable" refers to the heterogeneity of clinical presentations, which include recurrent infections, autoimmunity, enteropathy, and increased risk of malignancies. This wide spectrum of disease manifestations and being a diagnosis of exclusion poses a diagnostic challenge. It is pertinent to mention that CVID along with associated complications is the commonest symptomatic primary antibody deficiency but is scarcely mentioned in local literature. The main aim of presenting this case is to impress upon the importance of systematic immunological workup in cases of suspected immunodeficiency to prevent morbidity and mortality.
Topics: Humans; Common Variable Immunodeficiency; Developing Countries; Male; Female; Adult
PubMed: 38948994
DOI: 10.47391/JPMA.9376 -
JPMA. the Journal of the Pakistan... Jun 2024The most common twin ectopic pregnancy is heterotopic (1/7000). We are reporting a rare case of twin tubo-ovarian ectopic pregnancy, which was presented in the emergency...
The most common twin ectopic pregnancy is heterotopic (1/7000). We are reporting a rare case of twin tubo-ovarian ectopic pregnancy, which was presented in the emergency department of Ayub Teaching Hospital Abbottabad. A 30- year-old female arrived with worsening lower abdominal pain persisting for three weeks. She also had per-vaginal bleeding with passage of clots 1week ago. Clinical examination revealed a tense abdomen with tenderness in the left iliac fossa. Per-vaginally, there was cervical motion tenderness and fullness in the posterior fornix. Beta HCG level revealed a sub-optimal rise whereas Transabdominal ultrasound showed an echogenic shadow in the left ovary. The uterus appeared normal. On exploratory laparotomy a large left ovarian mass was seen with ruptured chronic right tubal pregnancy with adhesions. On cut-section of the ovary, a small foetus was evident. We have concluded that in case of subacute abdominal pain and an-echogenic mass on ultrasonography in reproductive age contralateral adnexa should be accessed to exclude contralateral ectopic pregnancy.
Topics: Humans; Female; Pregnancy; Adult; Pregnancy, Twin; Pregnancy, Tubal; Pregnancy, Ovarian; Abdominal Pain; Ultrasonography
PubMed: 38948993
DOI: 10.47391/JPMA.9355 -
JPMA. the Journal of the Pakistan... Jun 2024Giant cell tumour is a growth predominantly found in long bones of the body. Giant cell tumour has a rare occurrence in the head and neck. A case of a 31 year old male...
Giant cell tumour is a growth predominantly found in long bones of the body. Giant cell tumour has a rare occurrence in the head and neck. A case of a 31 year old male with no known comorbidities at the ENT Department, Shifa International Hospital, Islamabad presented with anterior neck swelling and hoarseness of voice. Patient was diagnosed as having Giant Cell Tumour of Larynx (GTCL) proven on FNA cytology and post-operative biopsy. GCTL is an uncommon entity with only 45 reported cases in the world.
Topics: Humans; Male; Laryngeal Neoplasms; Adult; Giant Cell Tumors; Laryngeal Cartilages; Hoarseness
PubMed: 38948992
DOI: 10.47391/JPMA.10483 -
JPMA. the Journal of the Pakistan... Jun 2024To assess the effect of haemodialysis practice guidelines on dialysis indicators and haemodynamic complications, the comparative study was conducted at the dialysis unit...
To assess the effect of haemodialysis practice guidelines on dialysis indicators and haemodynamic complications, the comparative study was conducted at the dialysis unit of Sheikh Zayed Hospital, Lahore, Pakistan, and comprised patients undergoing haemodialysis who were divided into intervention group A in which updated haemodialysis practice guidelines were used, and control group B in which routine base dialysis was given. Data was collected using a self-structured tool. Data was analysed using McNemar test and Mann-Whitney U-test with p<0.05. Compared to baseline, there was a significant improvement in post-intervention ratio of effective removal of clearance (K) resulting from the treatment characterised by time (t) in the patient with a specific volume of distribution (V), or Kt/V, median & IQR 0.83(0.355) vs 1.21(0.11) and percentage of urea reduction ratio with median & IQR 49(12) vs. 66.5(18.65) (p<0.05). Intradialytic hypotension was found in 17(56.6%) subjects in group B and in 4(13.4%) in group A (p=0.002). Intradialytic hypertension was found in 8(25.6%) patients in group B and 1(3.4%) in group A (p=0.039). It is recommended that dialysis be performed in accordance with the most recent clinical guidelines in order to improve practices and to increase haemodialysis effectiveness.
Topics: Humans; Renal Dialysis; Female; Male; Practice Guidelines as Topic; Middle Aged; Hypotension; Pakistan; Adult; Kidney Failure, Chronic; Hemodynamics; Hypertension; Aged; Urea
PubMed: 38948988
DOI: 10.47391/JPMA.8532