Radiological Studies Research Articles

Diagnostic accuracy of clinical diagnostic scoring systems for childhood tuberculosis: a systematic review and meta-analysis protocol

IntroductionDiagnosis of childhood tuberculosis (TB) poses several challenges. Therefore, clinical signs and symptoms, radiological studies, laboratory examinations, point-based scoring systems or diagnostic algorithms have been developed to improve diagnostic yields...

Optimum time of enucleation following marsupialization as a treatment strategy for large odontogenic keratocyst. (Radiologic and histopathologic study)

Optimum time of enucleation following marsupialization as a treatment strategy for large odontogenic keratocyst. (Radiologic and histopathologic study)

Automated labelling of radiology reports using natural language processing: Comparison of traditional and newer methods

AbstractAutomated labelling of radiology reports using natural language processing allows for the labelling of ground truth for large datasets of radiological studies that are required for training of computer vision models. This paper explains the necessary data preprocessing steps, reviews the main methods for automated labelling and compares their performance. There are four main methods of automated labelling, namely: (1) rules‐based text‐matching algorithms, (2) conventional machine learning models, (3) neural network models and (4) Bidirectional Encoder Representations from Transformers (BERT) models. Rules‐based labellers perform a brute force search against manually curated keywords and are able to achieve high F1 scores. However, they require proper handling of negative words. Machine learning models require preprocessing that involves tokenization and vectorization of text into numerical vectors. Multilabel classification approaches are required in labelling radiology reports and conventional models can achieve good performance if they have large enough training sets. Deep learning models make use of connected neural networks, often a long short‐term memory network, and are similarly able to achieve good performance if trained on a large data set. BERT is a transformer‐based model that utilizes attention. Pretrained BERT models only require fine‐tuning with small data sets. In particular, domain‐specific BERT models can achieve superior performance compared with the other methods for automated labelling.

Case report of a 60-year-old male with giant adrenal myelolipoma

Adrenal myelolipoma is a benign neoplasm of the adrenal gland that is the second most common primary adrenal incidentaloma, following adrenocortical adenomas. It is composed of elements of adipose tissue and with varying amounts of hematopoietic components. In the past, these tumors were discovered at autopsy, with an incidence ranging from 0.08% to 0.4%. Today, with the widespread use of radiological studies such as ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI), the incidental detection of myelolipoma has become more common, constituting up to 10-15% of incidental adrenal masses. The patient was hospitalized for a 3-month history of discomfort in the right flank, swelling over the right hypochondriac area, constipation, retrosternal burning sensation, and early satiety. His vitals were stable but per abdominal examination revealed a mass in the right hypochondrium. B-mode ultrasound screening revealed an adrenal tumor. A hematological examination revealed thrombocytopenia. The presence of unilateral adrenal mass with the absence of new-onset hypertension with CECT suggestive of mixed tissue density mass with multiple ill-defined heterogeneously hypodense fat attenuation led to the primary diagnosis of an adrenal mass After correction of thrombocytopenia, the mass was excised and subjected to histological evaluation. The histological study results corroborated with the original diagnosis of unilateral adrenal myelolipomas. The patient was followed up for 2 months postoperatively and was found to be relieved from the presenting symptoms with no postoperative complications. Adrenal myelolipoma is an uncommon, benign, and hormonally inactive adrenal gland tumor. It may present with symptoms due to compression of adjacent structures which warrants a surgical excision.

Effects of Crest Morphology on Lingual Concavity in Mandibular Molar Region: an Observational Study.

The aim of this radiological study is to evaluate the lingual concavity dimensions and possible implant length in each posterior tooth region according to posterior crest type classification by using cone-beam computed tomography. According to inclusion criteria, 836 molar teeth regions from 209 cone-beam computed tomography images were evaluated. Posterior crest type (concave, parallel, or convex), possible implant length, lingual concavity angle, width, and depth were recorded. In each posterior tooth region, concave (U-type) crest was detected most frequently while convex (C-type) was the lowest. Possible implant length values were higher in second molar regions than first molars. Lingual concavity width and depth were decreasing from second molars to first molars for both sides. Additionally, lingual concavity angle showed higher values in second molar sites than first molars. In all molar teeth regions, lingual concavity width values were the highest in concave (U-type) crest type while they were the lowest in convex (C-type) crest type (P < 0.05). Lingual concavity angle values were recorded as the highest in concave (U-type) and the lowest in convex (C-type) crest type at the left first molar and right molars (P < 0.05). The lingual concavity dimensions and possible implant length may vary according to crest type and edentulous tooth region. Due to this effect, the surgeons should examine crest type clinically and radiologically. All parameters in the present study are decreasing while moving from anterior to posterior as well as from concave (U-type) to convex (C-type) morphologies.

Day Surgery in Children Undergoing Retroperitoneal Robot-assisted Laparoscopic Pyeloplasty: Is It Safe and Feasible?

BackgroundRobot-assisted pyeloplasty is the most frequently performed robotic procedure in children. A retroperitoneal approach limits surgical trauma and avoids peritoneal irritation. This led to the establishment of the criteria for day surgery (DS) and a related clinical care pathway. ObjectiveTo assess the feasibility and safety of DS in children undergoing retroperitoneal robot-assisted laparoscopic pyeloplasty (R-RALP). Design, setting, and participantsWe performed a bicentric prospective study (NCT03274050) over 2 yr involving the two major paediatric urology teaching hospitals in Paris. A clinical pathway and a prospective research protocol were specifically established. InterventionDS in selected children undergoing R-RALP. Outcome measurements and statistical analysisThe primary outcomes were DS failure, 30-d complications, and readmission rates. The secondary outcomes included preoperative characteristics, perioperative parameters, and surgical outcomes. Quantitative variables were expressed as medians with interquartile ranges. Results and limitationsThirty-two children fulfilled specific inclusion criteria and were consecutively selected for DS following R-RALP. The median patient age was 7.6 yr (4.1–11.8) and weight 25 kg (14–45). The median console time was 137 min (108–167). There were no intraoperative complications or conversions. Six children were kept under observation overnight and discharged the following day due to persistent pain (n = 3), parental anxiety (n = 2), or a prolonged procedure (n = 1). The median duration of hospital stay of the 26 children in the DS setting was 12.7 h (12.2–13.2). During the 30-d period, there were four emergency room visits (15%) resulting in two patients requiring readmission (8%): one for febrile urinary tract infection (Clavien-Dindo II) and one child with no JJ stent for urinoma (Clavien-Dindo IIIb). Radiological studies confirmed improvement in dilatation for all cases with no recurrence (median follow-up: 15 mo). ConclusionsThis prospective case series is the first to demonstrate the feasibility and safety of DS in children undergoing R-RALP, obviating the need for routine inpatient care. Excellent results can be achieved by careful patient selection, a clear clinical pathway, and a dedicated team. Further evaluation is warranted to assess the cost effectiveness. Patient summaryThis study shows that day surgery after robotic pyeloplasty is both safe and effective in selected children.

Integrative diagnostics: the time is now—a report from the International Society for Strategic Studies in Radiology

Enormous recent progress in diagnostic testing can enable more accurate diagnosis and improved clinical outcomes. Yet these tests are increasingly challenging and frustrating; the volume and diversity of results may overwhelm the diagnostic acumen of even the most dedicated and experienced clinician. Because they are gathered and processed within the “silo” of each diagnostic discipline, diagnostic data are fragmented, and the electronic health record does little to synthesize new and existing data into usable information. Therefore, despite great promise, diagnoses may still be incorrect, delayed, or never made. Integrative diagnostics represents a vision for the future, wherein diagnostic data, together with clinical data from the electronic health record, are aggregated and contextualized by informatics tools to direct clinical action. Integrative diagnostics has the potential to identify correct therapies more quickly, modify treatment when appropriate, and terminate treatment when not effective, ultimately decreasing morbidity, improving outcomes, and avoiding unnecessary costs. Radiology, laboratory medicine, and pathology already play major roles in medical diagnostics. Our specialties can increase the value of our examinations by taking a holistic approach to their selection, interpretation, and application to the patient’s care pathway. We have the means and rationale to incorporate integrative diagnostics into our specialties and guide its implementation in clinical practice.Graphic abstract

The Change of Oral Presentations of National Anatomy Congresses Over the Years

Objective: In this study, it is aimed to examine the characteristics and publication rates of oral presentations presented in national congresses.Methods: The data about the oral presentations in national anatomy congresses (from 2016 to 2021), including the number of contributing institutions, the institutions that contributed the most oral presentations each year, and the publication rates of the oral presentations in the journals scanned in different indexes. In the study, the titles and the keywords were scanned using Google Scholar and Web of Science, and journal index details were noted.Results: Of the national congresses we examined in our study, the most oral presentations (193) were the congress in 2019 and the least oral presentations (47) were the congress in 2017. The publication rate of oral presentations was highest in the papers of the congress in 2016 (42%) and at least in the papers of the congress in 2019 (13%). None of the oral presentations in the last congress held in 2021 were published until the time of our study. Large proportions (34%) of the papers that are accepted as oral presentations and published are radiological studies. 70% of the publications were published in journals indexed in Web of Science.Conclusion: For both new and senior academics, congresses offer a useful and distinctive setting. Congress papers showcase the scientific opportunities and interests of various universities while also providing opportunities for collaboration. Attendance at a conference is significantly influenced by its location, timing, and financial situation.

Clinical aspects and cytomorphological and functional features of the nasal mucosa in chronic pathology of the intranasal structures and their verification from CT data

Background. Approximately 30% of the general human population suffers from chronic pathology of intranasal structures, the main manifestations of which are impaired nasal breathing and sense of smell. The main instrumental diagnostic methods for this pathology are X-ray computed tomography (CT), which allows obtaining data on the architecture of the anatomical structures of the upper respiratory tract, and rhinomanometry, based on the results of which it is possible to assess the functional capacity of the nasal cavity during breathing. Also, a thorough study of the cytological material of the mucous membrane of the upper respiratory tract is an important component in determining the functional state of the nasal cavity, clarifying the diagnosis and choosing a treatment method. This allows the doctor to determine the composition and number of cellular elements in the material, assess their condition (destruction, proliferation, dystrophy, necrosis, etc.), ascertain the intensity of the body’s reactive abilities, monitor the dynamics of tissue recovery or the healing process in them, and encourages researchers to study in more detail and comparing the materials of clinical, radiological and cytological studies with the aim of developing a pathogenetically directed complex treatment of patients with nasal breathing disorders. Therefore it is necessary to know aspects of correlation between the results of rhinocytography and CT data in typical pathological conditions with nasal congestion are considered. Purpose – is to study the clinical aspects and cytomorphological and functional features of the nasal mucosa in patients with pathology of intranasal structures with respiratory and olfactory disorders and research their independent verification based on the CT data. Materials and Methods. Clinical examination of patients included the study of complaints, anamnesis of the disease, examination of the ENT organs, rhinomanometry, endoscopic examination of the nasal cavity and nasopharynx, The CT of the paranasal sinuses using 3D cone beam tomography on the Vatech PaX-i3D device, as well as cytological examination of the nasal mucosa. The criteria for participation in the study were the absence of chronic diseases of the cardiovascular, respiratory, digestive, urinary systems, as well as heredity burdened by these diseases. Results. Formation of a different nature of the course and severity of disorders is associated with inflammatory, dyscirculatory and trophic disorders in the nasal mucosa, which weaken both mucociliary clearance and local immunity. This applies mainly to the I group of observations. The consequence of a decrease in local immunity factors in the nasal mucosa is microbial contamination, which is associated with a long-term nasal breathing disorder in the I and II groups of observations, up to five years and six months, respectively. The results of rhinocytography mostly correspond with the aerodynamic models data of nasal сavity from the CT datasets. Conclusions. Despite the reliability of the examinations carried out by us, the cytological examination of the nasal mucosa is only an additional analysis, the interpretation of which should be based on the clinical picture of a particular patient. Proposed aerodynamic model from CT-datasets actually provides an independent verification of the aerodynamic characteristics of the nasal cavity, obtained from rhinomanometry data, and may indicate a violation of nasal breathing according to changes in the internal anatomical configuration of the nasal chanel.

Mexico City, cradle of the first radiologic study in the Mexican Republic

Mexico City, cradle of the first radiologic study in the Mexican Republic

Osteoporosis and vertebral trabecular bone health: an historico-anthropological perspective

This brief review article aims to recapitulate the history of osteoporosis from the most ancient observations to the current clinical definition, by offering a perspective on trabecular bone health and degeneration, which has become of paramount important both in clinical, radiological and biological anthropological studies.

Radiological study of variations in intersphenoidal septum in a south Indian population- a retrospective cross-sectional study

Introduction and Aim: The anatomical variations in intersphenoidal septum (ISS) will affect the ease of surgery and risk of intraoperative injury to neurovascular structures. It is very important to assess the same in different populations using preoperative imaging. Hence the objective of this study is to determine the prevalence of anatomical variations of intersphenoidal septum and its pattern of attachment among Southern Indian population for better planning of surgery and avoid complications.&#x0D; &#x0D; Materials and Methods: A retrospective cross-sectional analysis of patients who underwent computed tomography paranasal sinus at a tertiary care hospital was done. Data from 186 cases in total were used in this study. The proportion of cases with intersphenoidal septa was the primary outcome evaluated, and the number, location, development, and point of termination of intersphenoidal septa were the secondary outcomes. Statistical software for social studies was used to analyse the data.&#x0D; &#x0D; Results: Absence of intersphenoidal septum was noted in 0.5% of cases with predominant sellar type of pneumatization. Also, single intersphenoidal septum (81.6%), right sided deviation of septum (48.1%), complete formation of intersphenoidal septum (92.4%) and protrusion of septum towards optic nerve canal (45.9%) were the common findings noted in this study.&#x0D; &#x0D; Conclusion: Anatomical variations of the intersphenoidal septum clearly signify that the surgeons should keenly note the variations before planning the surgery.

The lymphatic system of the uterine cervix: towards a more precise definition of the drainage routes

Lymph node involvement in cancer of the uterine cervix is a major independent prognostic factor for overall survival. The aim of our study was to examine the lymphatic drainage regions of the different parts of the uterine cervix. An anatomical study of fresh cadavers was conducted by injecting patent blue in the anterior or posterior lip of the uterine cervix and dissecting drainage regions. Furthermore, a retrospective radiological and pathological studies were conducted on patients who were treated for early-stage cancer of the uterine cervix with lymph node involvement. Radiological analysis of pre-therapeutic MRIs and/or pathological analysis of surgical specimens showed the precise location of the tumour. A correlation between the anatomy of the primary lesion site and the lymphatic area involved was established. We administered 15 cadaveric injections: 8 in the anterior lip of the uterine cervix and 7 in the posterior one. For 100% of the anterior lip injections, lymphatic drainage was bilateral ileo-obturator (n = 8/8) combined with bilateral parametrial drainage. For the posterior injections, there was never any ileo-obturator drainage, and 6 of the 7 (75%) posterior injections drained in the posterior uterine serosa. Concerning the clinical study, we included 21 patients. We observed a non-significant tendency towards bilateral lymph node involvement when the tumour of the anterior lip. Physiological lymphatic drainage of the uterine cervix presents anatomical specificities, depending on the structure studied, anterior or posterior lip of the cervix. Better knowledge of these specificities should allow personalized surgery for each patient.

Imaging Among the Underserved: Utilization and Expenditures in a Student-Run Free Clinic

ObjectiveTo determine imaging utilization and expenditures among an underserved population at a student-run free clinic. MethodsThis was a retrospective review of billing records for all radiology studies performed over a 4-year period at a student-run free clinic supervised by physician faculty. All imaging services were outsourced through either direct payment by the clinic to a local imaging group or through in-kind donations. Radiology studies were grouped by modality and diagnostic category. Data were analyzed to determine overall and average imaging utilization and expenditures. ResultsAcross the 4-year study period, 413 radiology studies were performed with a yearly average of 103 (SD = 16). During this time, 192 (46%) ultrasounds, 123 (30%) radiographic studies, 40 (10%) MRIs, 37 (9%) CTs, 8 (2%) interventional procedures, and 5 (1%) nuclear imaging studies were obtained. Overall, expenditures were $157,888 with a yearly average of $39,472 (SD = $1982). In-kind donations accounted for $138,508 (88%) of expenditures. Across the 4-year study period, utilization increased by 15% with less than 1% increase in expenditures. DiscussionUltrasound was the most common imaging modality used. Overall imaging utilization was considerably less than that of published data in an ambulatory setting.

Fracture pattern analysis of fractures to the diaphysis of the fifth metatarsal

BackgroundFractures to the fifth's metatarsal (MT-V) diaphysis are common. These are inconsistently referred to as diaphyseal-, shaft-, or Dancer's fractures. A comprehensive analysis of the MT-V fracture morphology is missing. The aim was to qualitatively and quantitatively analyze fracture patterns of MT-V diaphyseal fractures. HypothesisFractures to the shaft of the fifth metatarsal feature specific fracture morphologies. Materials and methodsRetrospective, radiologic database study. Included were all acute, isolated MT-V shaft fractures (including the proximal [Lawrence and Botte (L&B) III] and distal meta-diaphysis). Demographics and fracture characteristics were assessed. Each proximal fracture line was drawn, scaled, and a qualitative and quantitative fracture line analysis was conducted. The quantitative fracture line analysis aimed at identifying dens clusters with arbitrary shape using the DBSCAN algorithm. Data are presented as mean±standard deviation. ResultsOut of 704 eligible MT-V fractures, 156 met the inclusion criteria. Patient's mean age was 46±19 years and 94% suffered a low energy trauma. Qualitative and quantitative fracture line analysis revealed three distinct fracture patterns. The proximal (30%) and distal (5%) meta-diaphyseal clusters showed a predominant transverse fracture pattern. The vast majority of diaphyseal fractures (56%) were spiral/oblique fractures, progressing from the proximal lateral meta-diaphyseal region in an oblique course at 61±9° to the medial distal diaphyseal cortex. Seven percent of diaphyseal fractures showed a transverse fracture pattern. DiscussionBased on a qualitative and quantitative analysis of all MT-V shaft fractures, three distinct fracture clusters were identified with homogeneous fracture patterns. MT-V shaft fractures should therefore be classified as proximal meta-diaphyseal (L&B Type III), diaphyseal (oblique or transverse) and distal meta-diaphyseal. Level of proofIV; retrospective database study.

Disseminating MSSA Infection in a Preterm Infant With Rare Finding of Spinal Epidural Abscess: A Case Report.

Methicillin-susceptible Staphylococcus aureus (MSSA) occurs more frequently in the neonatal intensive care unit (NICU) than methicillin-resistant S. aureus (MRSA) and can result in comparable morbidity and mortality in the neonatal population. MSSA infection may present as pustulosis or cellulitis and evolve into bacteremia, pneumonia, endocarditis, brain abscesses, and osteomyelitis. There is a paucity of literature regarding the treatment and long-term outcomes in the premature infant. A 32-week twin developed MSSA sepsis with presentation of pain, decreased movement of upper extremities, and global hypotonia. Blood cultures remained positive despite antibiotic coverage. The infant was admitted to the level IV NICU with the diagnosis of MSSA bacteremia, with concern for dissemination and osteomyelitis. Diagnostic studies included laboratory testing for sepsis evaluation, radiologic studies to evaluate for dissemination, immunologic testing to rule out complement deficiency, and hematology testing to rule out hypercoagulable conditions. Diagnostic testing showed extensive cellulitis, osteomyelitis, multiple liver abscesses, and epidural abscesses suggestive of spinal epidural abscess (SEA). Abscess debridement and irrigation on the left distal femur, left elbow, and right tibia were performed. The infant completed 8 weeks of IV antibiotic therapy. Immunologic and hematology testing was within normal limits. Prompt recognition and follow-up for clinical signs of sepsis are vital when caring for premature infants. Inclusion of pediatric subspecialist recommendations to assure all diagnostic studies and treatments are completed can significantly impact the patient's outcome. Long-term follow-up is needed for premature infants with the diagnosis of SEA.

Influence of the Slaughter Method on the Hygienic Quality of Beef Cattle Meat and Animal Welfare Biomarkers.

The main objective of this research was to carry out a comparative study between different types of slaughter in beef cattle with and without stunning. In addition, the hygienic quality of the obtained meat was determined through microbiological analysis and the animal welfare at the time of slaughtering was assessed by means of physiological parameters. A total of 52 blood samples collected at the slaughterhouse during slaughter (10 for each type of slaughter: regular, halal, and halal with stunning; 10 at the time of resting; and 12 from rotating box slaughter) were analysed for physiological parameters indicating animal welfare status, namely, glucose, cortisol, lactate dehydrogenase (LDH) and creatine kinase (CK). In addition, the meat from 30 of the above animals was analysed for aerobic mesophilic bacteria, enterobacteria and coliforms. Moreover, a radiological study of the possible skull damage due to the non-penetrative captive bolt used at the time of stunning in the halal rite slaughter was carried out. A significance difference (p < 0.05) in the microbiological counts per type of slaughter was observed. It was proven that the amounts of glucose, LDH, CK, and cortisol in plasma were influenced (p < 0.05) by the type of slaughter. The halal rite slaughter using stunning with a non-penetrative captive bolt resulted in the best hygienic quality of meat and obtained the lowest values for all animal welfare biomarkers.

The interosseous tuberosities of the forearm exist from 1-year-old: a pediatric radiological study describing the ages of appearance of the different forearm reliefs

Interosseous tuberosities have been described in adults on the radial and ulnar sides. However, their presence at birth and their development during growth is still unknown. The objective of this work is to establish the age of onset of this tuberosity among a cohort of children aged 1-year-old or older. All anterior-posterior and lateral radiographs performed in our hospital during a consecutive period of 6months were retrospectively analyzed. Exclusion criteria were: presence of a fracture, a tumor, an age higher than 16years, radiograph not performed strictly from the front with supination or from the side. On the anterior-posterior radiograph, the presence of the following structures was sought: radial interosseous tuberosity and determination of its length and width; the appearance of the epiphyseal nucleus of the radial head, of the bicipital tuberosity, and of the distal epiphysis. On the lateral views, the presence of the following structures was sought: ulnar interosseous tuberosity and determination of its length and width; the appearance of the olecranon epiphyseal nucleus, and the distal epiphysis. Over the review period, anterior-posterior and lateral radiographs were performed on 368 consecutive children. Finally, 179 patients were included in the radiographic analysis. The radial and ulnar interosseous tuberosities and bicipital tuberosity were present in all cases, from 1-year-old. Only the distal radial epiphysis began to appear at the age of one year, the others ossifying progressively during growth. Tuberositas interossea ulnarii and radii exists, are present from 1-year-old and continue to develop during growth.

Diagnostic Performance of Artificial Intelligence-Based Computer-Aided Detection and Diagnosis in Pediatric Radiology: A Systematic Review.

Artificial intelligence (AI)-based computer-aided detection and diagnosis (CAD) is an important research area in radiology. However, only two narrative reviews about general uses of AI in pediatric radiology and AI-based CAD in pediatric chest imaging have been published yet. The purpose of this systematic review is to investigate the AI-based CAD applications in pediatric radiology, their diagnostic performances and methods for their performance evaluation. A literature search with the use of electronic databases was conducted on 11 January 2023. Twenty-three articles that met the selection criteria were included. This review shows that the AI-based CAD could be applied in pediatric brain, respiratory, musculoskeletal, urologic and cardiac imaging, and especially for pneumonia detection. Most of the studies (93.3%, 14/15; 77.8%, 14/18; 73.3%, 11/15; 80.0%, 8/10; 66.6%, 2/3; 84.2%, 16/19; 80.0%, 8/10) reported model performances of at least 0.83 (area under receiver operating characteristic curve), 0.84 (sensitivity), 0.80 (specificity), 0.89 (positive predictive value), 0.63 (negative predictive value), 0.87 (accuracy), and 0.82 (F1 score), respectively. However, a range of methodological weaknesses (especially a lack of model external validation) are found in the included studies. In the future, more AI-based CAD studies in pediatric radiology with robust methodology should be conducted for convincing clinical centers to adopt CAD and realizing its benefits in a wider context.

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Isolated growth hormone deficiency (IGHD) is caused by a severe shortage or absence of growth hormone (GH), which results in aberrant growth and development. Patients with IGHD type IV (IGHD4) have a short stature, reduced serum GH levels, and delayed bone age. To identify the causative mutation of IGHD in a consanguineous family comprising four affected patients with IGHD4 (MIM#618157) and explore its functional impact in silico. Clinical and radiological studies were performed to determine the phenotypic spectrum and hormonal profile of the disease, while whole-exome sequencing (WES) and Sanger sequencing were performed to identify the disease-causing mutation. In-silico studies involved protein structural modeling and docking, and molecular dynamic simulation analyses using computational tools. Finally, data from the Qatar Genome Program (QGP) were screened for the presence of the founder variant in the Qatari population. All affected individuals presented with a short stature without gross skeletal anomalies and significantly reduced serum GH levels. Genetic mapping revealed a homozygous nonsense mutation [NM_000823:c.G214T:p.(Glu72*)] in the third exon of the growth-hormone-releasing hormone receptor gene GHRHR (MIM#139191) that was segregated in all patients. The substituted amber codon (UAG) seems to truncate the protein by deleting the C-terminus GPCR domain, thus markedly disturbing the GHRHR receptor and its interaction with the growth hormone-releasing hormone. These data support that a p.Glu72* founder mutation in GHRHR perturbs growth hormone signaling and causes IGHD type IV. In-silico and biochemical analyses support the pathogenic effect of this nonsense mutation, while our comprehensive phenotype and hormonal profiling has established the genotype-phenotype correlation. Based on the current study, early detection of GHRHR may help in better therapeutic intervention.