Rare Finding Research Articles

Bilateral renal artery stenosis in pediatric patient with Post-Streptococcal Glomerulonephritis in children: A case report

The immune-complex mediated inflammation known as post-streptococcal glomerulonephritis (PSGN) was once thought to be one of the most common causes of acute nephritis in children. In this case, we present a 12-year-old girl experiencing symptoms of cough phlegm, congested breath, change of urine color, decreased urine production, as well swelling in the area face and legs after experiencing fever, pain swallowing, cough, and runny nose 3 weeks before admission. On physical examination, the pressure blood was 130/80 mmHg. In addition, the palpebral and extremity were edema bilateral, hyperemia of the tonsil and pharynx, enlarged tonsils T2/T3, and detritus were found. Laboratory and Imaging Tests: hematology; leukocytes 12,930, albumin 2.4 g/dl, on urinalysis, obtained urine cloudy, brownish, leukocyturia, hematuria, and proteinuria, there was also an increase in ASTO titers, abdominal ultrasound found bilateral renal artery stenosis and nephritis bilateral acute. The patient in this case presented with bilateral renal artery stenosis, which is a rare finding in PSGN cases. Management of PSGN include bed rest, low salt diet, fluid balance, as well supportive treatment with IVFD D5 ½ NS 15 drops/min (micro), Antibiotics injection of Ceftriaxone 1 gram/12 hours on the first day and continued with oral Erythromycin 4x500mg, injection prednisolone 3x1, injection Furosemide 1x1 amp, oral spironolactone and sublingual nifedipine, and hypoalbuminemia correction. Prognosis in patients with the given GNAPS governance optimally will give good results.

Ultrasound detection of non-atherosclerotic intima-medial abnormalities of lower limbs arteries in amateur endurance runners

BackgroundStructural changes in the lower limb’s arterial wall in amateur endurance runners are a rare incidental finding, represented just by several case reports.AimStudy the incidence of non-atherosclerotic lower limb artery wall changes in defined group of amateur endurance runners and identify relationship with the training parameters and the relevant biochemical markers.MethodsAmateur male athletes engaged in endurance running for more than 5 years were enrolled. Tibial and anterior popliteal arteries on each side were examined by ultrasound with focus on non-atherosclerotic structural wall changes: intima-medial border blurring, presence and character of non-atherosclerotic noduli. Subsequently the descriptive and correlation analysis were performed.ResultsThe study enrolled 20 amateur male endurance runners from Black Swan Triathlon Club Slovakia. The low atherosclerotic risk was represented by normal lipid levels, BMI under 30 kg/m2 and non-smokers in all participants. At least one type of structural artery wall abnormality (noduli or intima-medial border blurring) was present in 19 of 20 participants (95%). The most present was the intima-medial blurring. (80% of participants). The noduli were present in 65% of study group, in almost 40% of these, they were considered as hyperechogenic. All these affections were predominantly in popliteal artery area (65%). The vast majority has bilateral affection. We find a mild correlation between these ultrasound findings and training load represented by annual kilometers and run hours. There was no association between these changes and lipid spectrum or CRP level.ConclusionThe subclinical lower limb artery changes, represented by intima-medial border blurring and non-atherosclerotic noduli were present in almost every amateur endurance runner. Despite the underlying mechanism is not understood, the increased training load seems to be one of the responsible factors.

TPPP-BRD9 fusion-related gallbladder carcinomas are frequently associated with intracholecystic neoplasia, neuroendocrine carcinoma, and a distinctive small tubular-type adenocarcinoma commonly accompanied with a syringomatous pattern

A fusion between tubulin polymerization-promoting protein (TPPP), a regulatory cytoskeletal gene, and the chromatin remodeling factor, bromodomain-containing protein 9 (BRD9), TPPP-BRD9 fusion has been found in rare cancer cases, including lung and gallbladder cancers (GBC). In this study, we investigated the histopathological features of 16 GBCs previously shown by RNA sequencing to harbor the TPPP-BRD9 fusion. Findings in the fusion-positive GBCs were compared with 645 GBC cases from the authors’ database. Among the 16 TPPP-BRD9 fusion-positive GBC cases, most were females (F:M = 7:1) of Chinese ethnicity (12/16), whereas the remaining cases were from Chile. The histopathological examination showed the following findings: 1) Intracholecystic neoplasm (ICN) in 7/15 (47% vs. 7% 645 reference GBCs, p < 0.001), all with gastro-pancreatobiliary phenotype, often with clear cell change, and in the background of pyloric gland metaplasia and extensive high-grade dysplasia. 2) Neuroendocrine carcinoma (NEC) morphology: 3 cases (27% vs. 4.6% in the reference database, p = 0.001) showed a sheet-like and nested/trabecular growth pattern of monotonous cells with salt-and-pepper chromatin characteristic of NECs. Two were large cell type, one had prominent clear cell features, a rare finding in GBNECs; the other one had relatively bland, well-differentiated morphology, and the remaining case was small cell type. 3) Adenocarcinoma identified in 8 cases had a distinctive pattern characterized by widely separated small, round tubular units with relatively uniform nuclei in a fashion seen in mesonephric adenocarcinomas, including hobnail-like arrangement and apical snouts, reminiscent of tubular carcinomas of the breast in many areas. In some foci, the epithelium was attenuated, and glands were elongated, some with comma shapes, which along with the mucinous/necrotic intraluminal debris created a “syringoid” appearance. 4) Other occasional patterns included the cribriform, glomeruloid patterns, and metaplastic tubular-spindle cell pattern accompanied by hemorrhage. In conclusion, TPPP-BRD9 fusion-positive GBCs often develop through intracholecystic neoplasms (adenoma-carcinoma sequence) of gastro-pancreatobiliary lineage, appear more prone to form NEC morphology and have a propensity to display clear cell change. Invasive adenocarcinomas arising in this setting often seem to display a distinctive appearance that we tentatively propose as the TPPP-BRD9 fusion-positive pattern of GBC.

Perinatal management for fetal oral epignathus with duplication of the pituitary gland (DPG)-plus syndrome: A case report and literature review.

The prenatal diagnosis of epignathus presents a unique challenge for physicians. Differential diagnosis is usually based on the anatomic location of the tumor. Typical prenatal ultrasound characteristics of epignathus include a mixed solid and cystic lesion with vascularity in the solid component, originating from the hard or soft palate, and it is often associated with other anomalies such as craniofacial clefts or trans-sphenoidal intracranial extension. Herein, we present a case of prenatal diagnosis of epignathus with rare ultrasonographic findings, prenatal management requiring collaborative efforts of a multidisciplinary team, and a well-planned innovative ex utero intrapartum treatment procedure. In addition, this report highlights the evolving postnatal diagnosis of the rare developmental anomaly, duplication of the pituitary gland-plus syndrome, which includes various midline craniofacial, central nervous system, spinal, and endocrine abnormalities.

Adrenal Cortical Rest in Fallopian Tube: An Incidental Rare Finding

Adrenal Cortical Rest in Fallopian Tube: An Incidental Rare Finding

Prospective Study to Assess the Clinicopathological and Prognostic Value of BRAF V600E Mutation in Metastatic Colorectal Cancer

Abstract Background BRAF is a protein kinase downstream of RAS in the RAS-RAF-MEK- ERK kinase pathway. The majority (&amp;gt;95%) of BRAF mutations in metastatic colorectal cancer (mCRC) is the BRAFV600E mutation, which is considered an important negative prognostic marker and is associated with resistance to standard chemotherapies in mCRC patients. Objectives This study aimed to investigate the BRAF mutation in patients with mCRC and its association with clinicopathological factors and survival outcomes. Patients and Methods The included specimens were analysed for BRAFV600E mutation by immunohistochemistry (IHC) from confirmed CRC patients with radiological or pathological evidence of metastasis. Results The BRAF mutation was positive in 9.1% of patients. Synchronous metastasis was observed in patients with BRAF mutation with statistical significance (P = 0.033). With regard to treatment, there was no statistically significant difference in patients with BRAF mutations who received targeted chemotherapy as first-line therapy also there was no statistically significant difference in median PFS of patients with BRAF mutation (p = 0.789) and also in median OS (p = 0.343). Conclusion Although the BRAF mutation is a relatively rare finding in mCRC, it is characterized by a critical negative impact on treatment outcome. Given this poor outcome, optimization of therapy is an important goal.

‘Let My Son Play’: Toys and Games for the Children of the Ancient Near East

ABSTRACT In the Ancient Near East, written and iconographic sources, and objects found in children's graves provide insight into children material culture. Rare finds, like clay figurines, miniature carts, and unique stone objects, suggest a mix of playthings and possibly ritual items. The presence of such items in children's tombs, different from adult burials, indicates a blend of practical and emotional elements in the burial ritual. The ambiguity surrounding these objects highlights the emotional and personal aspect of children's material culture, offering avenues on the complexity of their lives.

A comprehensive exploration of gallbladder health: from common to rare imaging findings.

This comprehensive review explores a wide range of imaging findings associated with the gallbladder (GB), from anatomic variants to rare diseases. Through an in-depth review of diagnostic modalities including ultrasound, magnetic resonance cholangiopancreatography, CT, and MRI, we aim to highlight the crucial role of imaging techniques in diagnosing GB disorders, as congenital anomalies, inflammatory diseases, neoplasms, and surgical complications. Employing a detailed analysis and comparison of imaging findings across various modalities, this review seeks to improve diagnostic accuracy for GB-related pathologies, facilitating optimal patient management.

Primary mucinous carcinoma of eyelid skin, a rare finding

Primary mucinous carcinoma of eyelid skin is a rare type of sweat gland carcinoma, with around 300 cases described to date. The most frequent clinical presentation is an asymptomatic nodule with characteristics very similar to those of other benign nodules, so the definitive diagnosis is always histopathological. Although the primary mucinous carcinoma of the skin (PMCS) risk of metastasis is low, its recurrence is much more frequent, so it is critical to expose the cases that we find of this tumor to help a better diagnosis in daily practice. We present the case of a patient with a nodule on the eyelid, and biopsy revealed findings compatible with PMCS.

Liver enzyme profiles after initiating biological treatment in children with inflammatory bowel diseases.

Biological treatments (BTs) are essential in managing pediatric inflammatory bowel diseases (PIBDs). Elevated liver enzymes sometimes succeed BT, yet elucidating studies are scarce. We addressed liver biochemistry after introducing BT and searched for their determinants. We identified PIBD patients receiving infliximab, adalimumab, vedolizumab, or ustekinumab at the Children's Hospital, University of Helsinki, Finland, in 2000-2023, and followed their alanine transaminase (ALT) and γ-glutamyl transpeptidase (GT) levels for 24 months. ALT was categorized based on the age- and sex-specific upper limit of normal. We disregarded 46 patients with underlying primary sclerosing cholangitis with/without autoimmune hepatitis (AIH), pretreatment AIH diagnosis, and elevated liver enzymes at the beginning of BT from the analyses. Of 618 BT episodes in 403 patients, 22.2% exhibited increased ALT or GT (ALT in 117, GT in 4, and both ALT/GT in 16 episodes). Of all ALT elevations (n = 133), 41.4% occurred within the first 3 months. ALT elevation was more common after infliximab (representing 59.5% of BTs) than other BTs (25.9% vs. 14.2%, adjusted odds ratio [OR]: 2.41, 95% confidence interval [CI]: 1.23-4.72). AIH followed 1.5% (n = 9) of BT episodes. Ninety-five percent of ALT elevations resolved within 6 months. Antibiotic exposure (particularly to metronidazole) was associated with ALT elevation in general (adjusted OR: 5.76, 95% CI: 2.40-13.9) and short disease duration before starting BT with notable ALT elevation (adjusted OR: 1.10, 95% CI: 1.01-1.22). Benign ALT elevation is common within 3 months after starting BT (especially infliximab) and scarcely led to cessation of the treatment. AIH is a rare finding during the first year of BT.

Unveiling the Rarity: A Case Report on Gigantic Primary Scrotal Lipoma

Primary scrotal lipoma is an exceptionally rare finding, typically detected incidentally but posing diagnostic dilemmas when presenting as a substantial mass. Often mistaken initially for inguinal-scrotal hernias or testicular malignancies due to clinical similarities, accurate differentiation is essential for appropriate management. Here, we present a case of a middle-aged male with a massive scrotal swelling, initially raising concerns of malignancy. However, thorough clinical evaluation and imaging studies guided by suspicion for lipomatous origin facilitated the correct diagnosis. Histopathological examination confirmed the presence of a primary scrotal lipoma, highlighting the importance of considering lipomas in the differential diagnosis of scrotal masses. Surgical excision remains the mainstay of treatment to alleviate symptoms, prevent complications, and confirm the benign nature of the lesion. This case underscores the need for heightened awareness among clinicians managing scrotal pathologies to ensure timely diagnosis and effective management strategies in urological practice.

Hearing Improvement after Radiation Therapy for a Facial Nerve Schwannoma: Report of a Case and Review of Literature

Abstract Introduction While facial nerve schwannomas are considered benign, they can impart various significant clinical effects due to pressure on nearby cerebrovascular structures within the cerebellopontine angle (CPA). Although surgical resection and/or radiation therapy often provide definitive treatment of such tumors, posttreatment hearing loss is a common finding. In this report, we present the case of a patient with a facial nerve schwannoma successfully treated with radiotherapy with resultant hearing improvement, an extremely rare clinical finding. Case Presentation A 63-year-old woman presented with a 1-year history of progressively worsening hearing loss and tinnitus. Brain imaging demonstrated an enhancing lesion of the right CPA measuring 2.7 × 2.1 × 3.1 cm. Pretreatment audiometry evaluation revealed sensorineural hearing loss in the right ear with a pure-tone average (PTA) of 74 dB, speech threshold (ST) of 75 dB, and speech discrimination (SD) of 0%. The patient proceeded with attempted surgical resection, aborted due to significant facial nerve stimulation, and ultimately underwent radiation therapy (50.4 Gy, 28 fractions). At the 1-year follow-up visit, the patient reports subjective hearing loss resolution with PTA of 34 dB, 30 dB ST, and 88% SD on audiological evaluation. Conclusion Although radiation therapy for schwannomas within the CPA has historically been associated with hearing loss, fractionated stereotactic radiotherapy (FSRT) may provide improved clinical outcomes compared with high-dose radiosurgery. Given the effectiveness of this treatment modality and improved quality of life offered to patients over surgery, FSRT may be considered an initial management option for patients with facial nerve schwannomas.

Insights into the genomic and functional divergence of NAT gene family to serve microbial secondary metabolism

Microbial NAT enzymes, which employ acyl-CoA to acylate aromatic amines and hydrazines, have been well-studied for their role in xenobiotic metabolism. Some homologues have also been linked to secondary metabolism, but this function of NAT enzymes is not as well-known. For this comparative study, we surveyed sequenced microbial genomes to update the list of formally annotated NAT genes, adding over 4000 new sequences (mainly bacterial, but also archaeal, fungal and protist) and portraying a broad but not universal distribution of NATs in the microbiocosmos. Localization of NAT sequences within microbial gene clusters was not a rare finding, and this association was evident across all main types of biosynthetic gene clusters (BGCs) implicated in secondary metabolism. Interrogation of the MIBiG database for experimentally characterized clusters with NAT genes further supports that secondary metabolism must be a major function for microbial NAT enzymes and should not be overlooked by researchers in the field. We also show that NAT sequences can be associated with bacterial plasmids potentially involved in horizontal gene transfer. Combined, our computational predictions and MIBiG literature findings reveal the extraordinary functional diversification of microbial NAT genes, prompting further research into their role in predicted BGCs with as yet uncharacterized function.

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The NOD2 mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel screening, and in one subject, exome sequencing was performed. Blau syndrome presenting as uveitis, skin rush or arthritis was diagnosed in four cases from three families. In two individuals from one family, only camptodactyly was noted, while another member had camptodactyly in combination with non-active uveitis and angioid streaks. One proband developed two attacks of meningoencephalitis attributed to presumed neurosarcoidosis, which is a rare finding in Blau syndrome. The probands from families 1 and 2 carried pathogenic variants in NOD2 (NM_022162.3): c.1001G>A p.(Arg334Gln) and c.1000C>T p.(Arg334Trp), respectively. In family 3, two variants of unknown significance in a heterozygous state were found: c.1412G>T p.(Arg471Leu) in NOD2 and c.928C>T p.(Arg310*) in NLRC4 (NM_001199139.1). In conclusion, Blau syndrome is a phenotypically highly variable, and there is a need to raise awareness about all clinical manifestations, including neurosarcoidosis. Variants of unknown significance pose a significant challenge regarding their contribution to etiopathogenesis of autoinflammatory diseases.

Cholangiocarcinoma With Liver Metastasis in Squamous Cell Carcinoma Type: A Case Report

A cholangiocarcinoma is a cancerous growth that originates within the biliary tree and spans from the bile ductules, in the intrahepatic region, to the ampulla of Vater. Most of these tumors are adenocarcinomas, with squamous cell carcinoma (SCC) of the bile duct and are considered a rare finding. Published literature on these types of malignancies is limited. This case report provides an example of cholangiocarcinoma in SSC type with liver metastasis. Computed tomography (CT), ultrasonography, magnetic resonance imaging (MRI) with contrast, and magnetic resonance cholangiopancreatography (MRCP) were performed, and the results showed a necrotic mass throughout the central liver. Finally, a liver biopsy was completed and yielding a diagnosis of an SSC of the bile duct.

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.

Endoscope disinfectant-induced colonic pseudolipomatosis: case series of a rare condition.

Aim: Colonic mucosal pseudolipomatosis is a rare and benign endoscopic finding with distinct macroscopic and histological characteristics. Case series: We observed a form of unprecedented colitis in eight patients in a 3-month period. Operators have found, during colonoscopy, flat or slightly raised whitish-yellow plaques, in the colonic mucosa of all patients. Histological examination concluded to pseudolipomatosis. After investigation, the disinfectant machine was found to have technical malfunctioning of the rinse cycle of the endoscope during this period. No other cases were observed after the machine was fixed. Conclusion: Pseudolipomatosis is more an endoscopically induced lesion than a true pathological condition. A careful check of the disinfection process should be carried out when such lesions are detected.

An Interesting Case of Pulmonary Tuberculosis with Hypoxemic Respiratory Failure Mimicking Interstitial Lung Disease

Hypoxemic respiratory failure is a rare presentation of active pulmonary tuberculosis (TB). Though tuberculous acuterespiratory distress syndrome (ARDS) is well documented in medical literature, non-ARDS respiratory failure is seldomreported in active pulmonary TB. We herein report a case, which posed a diagnostic dilemma as it clinically mimickedinterstitial lung disease. Imaging showed unilateral localized smooth interlobular septal thickening along with consolidationwithout significant mediastinal lymphadenopathy. To the best of our knowledge, this rare radiological finding has not beenreported in medical literature as being associated with hypoxemic respiratory failure in pulmonary TB patients.

Rare radiograph finding: Kohler disease

Rare radiograph finding: Kohler disease

Scythian and Sarmatian Weapons in Shilovsky District Museum of Local History

During the early Iron Age, the Middle Oka Region was inhabited by Gorodets tribes. The collection of Scythian and Sarmatian weapons in Shilovsky District Museum of Local History is mainly comprised with accidental finds made by locals and materials discovered by exploration researches. Shilovsky District of Ryazan Region is situated at the border between mixed and broad-leaved forests. Back in the early Iron Age they were occupied by Gorodets tribes. The indigenous people were engaged in hunting, fishing and cattle breeding. The area is fringed with forest-steppe vegetation in the south. It provided access to steppe nomadic invaders. It is proven by finds of Scythian and Sarmatian weapon. Scythian iron arrowheads have three blades, narrow triangular proportions and a bushing longer than the fletching. Similar arrowheads are typical for Scythian antiquities found in the Middle Don River and dated 4th–3rd century BC. Iron tanged triple-bladed arrowheads have Sarmatian origins and date back to 3rd–1st century BC. Iron acinaci are severely damaged with corrosion, which prevents establishment of their typology and chronology. The original find is a combat knife with a ring pommel and a single-edged blade Single-edged bladed weapon was created under oriental influence. The early Scythian is the period an iron spearhead with a C-shaped bushing is dated. It is transition from bronze heads to iron ones. One of the rare finds is a bell-shaped copper helmet. It has signs of damage that obstruct its typological identification. Its closest equivalents are the Montefortino helmets and pilei. Having analysed the collection of artefacts it can be concluded that the Gorodets people and steppe nomads were actively interacting at war during the entire Scythian-Sarmatian epoch. The research fails to confirm that the steppe nomads were trade intermediaries between the Antique Black Sea area and the forest zone people