Rare Association Research Articles

Systematics and palaeobiology of kangaroos of the late Cenozoic genus Protemnodon (Marsupialia, Macropodidae)

Species of the kangaroo genus Protemnodon were common members of late Cenozoic communities across Australia and New Guinea until their extinction in the late Pleistocene. However, since the genus was first raised 150 years ago, it has proven difficult to diagnose, as have the species allocated to it. This is due primarily to the incompleteness of the type material and a heavy reliance on cheek tooth size and slight variations in premolar form. Along with the rare association between cranial and postcranial material, this has hampered understanding of the palaeobiology of these large-bodied kangaroos. Here we review and re-diagnose Protemnodon, recognising a total of seven species and providing a hypothesis of species interrelationships. The following new synonymies are made: Protemnodon chinchillaensis is synonymised with P. otibandus and P. hopei with P. tumbuna. The following are considered nomina dubia: Protemnodon brehus, P. roechus, P. mimas, P. antaeus, and P. devisi. We reveal that the morphology of the cheek dentition is not as consistently useful for differentiating species of Protemnodon as features of the cranium and postcranial skeleton. As a whole, the species share anatomical features that reflect stability and power in the limb joints, yet they differ in body proportions, and axial and limb morphology. This we interpret as showing locomotory adaptations to different habitats. Of the three Pliocene species, Protemnodon snewini is interpreted as a medium- to high-geared hopper, suggesting proficiency in more open environments, whereas P. dawsonae sp. nov. we infer to have been a medium-geared inhabitant of eastern Australian forests and woodlands. Protemnodon otibandus, with a range extending through the woodlands and forests of eastern Australia into the rainforests of eastern New Guinea, displays adaptations to slower hopping. Its Pleistocene descendant, P. tumbuna, is convergent on the morphology of modern New Guinea forest wallabies, and was likely facultatively quadrupedal. Of the three Australian Pleistocene species, the long-necked P. anak is hypothesised to have been a large, medium-geared, eastern Australian species, and P. mamkurra sp. nov. a robust, low-geared resident of well-wooded southern Australia habitats. By contrast, P. viator sp. nov. was larger but more gracile, suggested to be a medium- to high-geared species convergent in some traits on large extant kangaroos. This and a wide inland distribution point to adeptness in open, arid environments. Protemnodon mamkurra sp. nov. and P. viator sp. nov. occupy the morphospace previously occupied by P. roechus and P. brehus. Overall, the species of Protemnodon exhibit a degree of ecomorphological variation suggestive of a broader array of ecological adaptations than hitherto envisioned.

Sweet syndrome and secondary syphilis: a rare association that should not be missed.

Sweet syndrome and secondary syphilis: a rare association that should not be missed.

Jejunal Atresia With a Rare Association: A Case Report and Literature Review

Jejunal Atresia With a Rare Association: A Case Report and Literature Review

Diagnostic dilemma – Ovarian dermoid cysts presenting with uncommon complications and a rare association

Mature cystic teratomas, also known as dermoid cysts, are commonly encountered ovarian tumors accounting for up to 10–25% of all ovarian neoplasms. Mostly asymptomatic and incidentally detected, they may present with associated complications such as torsion, rupture, malignant transformation, and infection. Fistulization of ovarian cysts into the bowel is a rare complication and occurs in cases of infection or malignant transformation. We present a rare case of an infected dermoid cyst with co-existing endometriosis and fistulization into the rectum in a 35-year-old female. The patient presented with fever, pain, and history of infertility. This article highlights the important differential diagnosis to be considered in a multiloculated ovarian cyst containing fat and pockets of air.

51 Pulmonary Hemorrhage in a Patient with COL4A1 Mutation: A Rare Association

51 Pulmonary Hemorrhage in a Patient with COL4A1 Mutation: A Rare Association

Choledochal Cyst with Pancreas Divisum – Surgical Insight into A Rare Association


 
 
 
 Congenital pancreaticobiliary anomalies like pancreatic divisum (PD), choledochal cysts (CDC), anomalous pancreaticobiliary ductal union (APBDU) have been reported in 5.7% of patients undergoing magnetic resonance cholangiopancreatography. CDC’s are characterized by abnormal dilatations of the intrahepatic and/or extrahepatic portion of the biliary tree and can be complicated by cystolithiasis, cholangitis, pancreatitis and malignant transformation necessitating surgical managemnet. While CDCs are commonly associated with APBDU, combination of CDC with PD is rare and a potential surgical challenge. We report a case of recurrent cholangitis in a patient with CDC and coincidental classic PD and illustrate how preoperative identification, fastidious dissection technique to safeguard both the pancreatic ducts and simple intraoperative preemptive strategies may decrease consequences of distal stump blowout. PD, pancreatic divisum; CBD, common bile duct; CDC, choledochal cysts; APBDU, anomalous pancreaticobiliary ductal union; MRCP, magnetic resonance cholangiopancreatography; DOS, Duct of Santorini; DOW, Duct of Wirsung; PTBD, percutaneous transhepatic biliary drainage; RYHJ, roux en Y hepaticojejunostomy.
 
 
 

Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case

Introduction: Cat-eye syndrome is a rare genetic disease with extremely diverse phenotypes. Its most common manifestations include ocular coloboma, anal atresia, preauricular skin tags and pits. Case report: We report the third case of Cat-eye syndrome associated to Mullerian agenesis in a 28 years-old female, to highlight the possibility of a link between partial trisomy or tetrasomy of chromosome 22 (specifically of the region 22q11) and Müllerian agenesis. Discussion and Conclusion: In patients with CES, the short arm (p) and a small part of the long arm (q) of chromosome 22 are present three or four (trisomy or tetrasomy) times rather than twice in every cell of the organism. Schinzel et al, described in 1981 the first case of Cat eye syndrome associated to Mullerian agenesis in their series of 11 patients with CES. The second case of Müllerian agenesis in a patient with CES was reported by AlSubaihin et al. This rare association is suggesting that there may be genes in or near the 22q11 CES critical region that are important for normal mullerian development. Keywords: Cat-eye syndrome – Mullerian agenesis – Malformations – Genetic analysis

Anti- Synthetase Syndrome with Kaposi Sarcoma: An Unusual Association

Kaposi sarcoma (KS) is a rare angioproliferative tumor whose etiology is associated with human herpesvirus 8 and it is widely known as a complication of acquired immunodeficiency syndrome and, the assocciation with anti synthetase syndrome (ASS) have rarely been reported. Herein we present a case of a 64-year-old woman diagnosed with ASS and Kaposi’s disease as a rare association.

Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample

Despite the large public health toll of smoking, genetic studies of smoking cessation have been limited with few discoveries of risk or protective loci. We investigated common and rare variant associations with success in quitting smoking using a cohort from 8 randomized controlled trials involving 2231 participants and a total of 10,020 common and 24,147 rare variants. We identified 14 novel markers including 6 mapping to genes previously related to psychiatric and substance use disorders, 4 of which were protective (CYP2B6 (rs1175607105), HTR3B (rs1413172952; rs1204720503), rs80210037 on chr15), and 2 of which were associated with reduced cessation (PARP15 (rs2173763), SCL18A2 (rs363222)). The others mapped to areas associated with cancer including FOXP1 (rs1288980) and ZEB1 (rs7349). Network analysis identified significant canonical pathways for the serotonin receptor signaling pathway, nicotine and bupropion metabolism, and several related to tumor suppression. Two novel markers (rs6749438; rs6718083) on chr2 are flanked by genes associated with regulation of bodyweight. The identification of novel loci in this study can provide new targets of pharmacotherapy and inform efforts to develop personalized treatments based on genetic profiles.

Double secondary aorto-enteric fistula: a case report

Introduction: Endoprothesis infections (EIs) are rare postoperative complications of endovascular procedures, with incidence ranging from 0.2% to 0.7%. Secondary aorto- enteric fistulas presents a mortality rate of approximately 60%, featuring more prevalence the association with the duodenum (70%) and displays a rare association when endovascular procedures are performed. Case report: This study reports the case of a 72-year-old male patient who developed a duodenal aorto-enteric fistula associated with a fistula in the sigmoid colon and left common iliac artery after undergoing by stent implantation for aortic aneurysm repair. Successful treatment and surgical correction was performed. Conclusion: Aorto-enteric fistulas after endovascular approach correspond to a rare complication with high mortality, being extremely important the early diagnosis and effective therapeutic approach.

Situs viscerum inversus and abdominal aortic aneurysm: A systematic review of a rare association.

Situs viscerum inversus (SVI) is a very rare condition in that abdominal and thoracic organs are located reversed. Abdominal aortic aneurysm (AAA) is a life-threatening pathology due to progressive aortic enlargement until the rupture. The association between SVI and AAA is very infrequent. The aim of this study is to identify the surgical procedures available to treat AAA in SVI. We performed a literature review of all studies about AAA in SVI patients, analyzing PubMed/MEDLINE, EMBASE, Web of Science (WOS), Google Scholar databases. The survey includes all publications until June 2023. The outcomes include demographic findings, type of surgical procedure, intraoperative and postoperative complications, follow-up. A total of 12 studies, including 12 patients, were considered eligible for the review. AAA mean size was 70.5 mm (range: 55-90 mm); the most common localization was in the infrarenal aortic portion. 6 studies reported data on elective surgery, and 6 on emergency procedures. In one case endovascular treatment was performed. No intraoperative complications are reported; 3 postoperative complications are registered. Medium follow-up period was 13.5 months (range: 3-60). According to the available literature, the treatment of AAA in SVI is feasible and does not show an incremented morbidity compared to patients with a normal visceral configuration. This treatment seems to be effective also in case of endovascular treatment. AAA treatment in SVI should be performed (especially in elective settings) in high volume centers where it is possible to bring on collaboration across different surgical specialists.

Disseminated Intravascular Coagulation With Excessive Fibrinolysis (DIC-XFL) A Rare Association of Metastatic Prostate Adenocarcinoma: A Case Report

We present disseminated intravascular coagulation (DIC) with excessive fibrinolysis (XFL) as an unusual presenting manifestation of metastatic prostate cancer (PC), which was successfully treated with chemotherapy with Docetaxel which not only controlled the disease but also reversed the patient’s coagulopathy within seven days effectively. Thus highlighting rare and life-threatening haemorrhagic complications of prostate cancer along with its satisfactory management option.

[Double aortic arch and aortotracheal fistula as cause of fatal massive bleeding: a rare and dangerous association].

To present a clinical case with an unusual association of DAA with ATF and to reinforce the importance of maintaining high diagnostic suspicion in patients with massive aerodigestive bleeding without an obvious source. A 32-week preterm newborn who required prolonged mechanical ventilation and presented intermittent episodes of massive oropharyngeal bleeding with hemodynamic compromise associated with lower airway obstruction without pulmonary hemorrhage. The patient underwent upper endoscopy and exploratory laparotomy without evidence of bleeding. Flexible nasopharyngolaryngoscopy and direct laryngoscopy also showed no abnormalities. A CT angiography showed complete DAA with indentation of the left dominant arch over the trachea, without severe stenosis or evidence of a fistula. AEF was suspected, so exploratory surgery was considered. However, the patient died before surgery due to a massive pulmonary hemorrhage. The autopsy revealed the presence of ATF. In patients with massive aerodigestive bleeding without an obvious source, the presence of DAA and possible AEF/ ATF should be considered. Imaging studies have a poor performance for this diagnosis, so surgery should be considered for diagnosis and treatment in these patients.

PICA flow-related aneurysms and posterior fossa AVM: rare association and challenging management: case presentation and review of literature

BackgroundThe association of an infratentorial arteriovenous malformations (AVMs) with a PICA aneurysm is very rare and the presence of associated aneurysms was an independent predictive factor of poor outcome at follow-up for posterior fossa AVMs (pfAVMs). We report the case of a 57-year-old female patient admitted to our institution with a challenging management of a pfAVM associated with multiple flow-related aneurysms of the PICA.Case presentationA 57-year-old patient with no medical past history was admitted to our emergency department with a sudden onset headache and severe neck stiffness. A cerebral CT Scan showed a cerebellar hematoma. Digital subtraction angiography demonstrates a right paramedian supero-posterior infratentorial AVM located at the posterosuperior part of the right cerebellar hemisphere with a small compact nidus supplied by branches of the right PICA and the right superior cerebellar artery. Venous drainage being toward the torcular. The AVM is associated with 3 flow-related aneurysms. We opted for surgical treatment of the 2 high-flow aneurysms on the distal branch of the right PICA. Patient was then sent for radiosurgery for the AVM. We opted for observation of the left small aneurysm.ConclusionMicrosurgery for PICA aneurysms is particularly well suited because exposure through a far-lateral craniotomy is excellent. Endovascular embolization can be used to occlude the aneurysm as well as treat the AVM at the same time in certain circumstances. Clipping or coiling the aneurysm should be discussed in a multidisciplinary meeting.

Isolated dextrocardia and rheumatoid arthritis with mitral stenosis with pulmonary hypertension with atrial fibrillation: A rare association

This case presents a rare occurrence of rheumatoid arthritis (RA) in a 50-year-old woman with concurrent mitral valvular disease and dextrocardia. Diagnosed with seropositive RA 5 years earlier, the patient exhibited fever, cough, and progressive dyspnea. Clinical examination revealed irregular tachycardia, elevated jugular venous pressure, and signs of heart failure. Laboratory results confirmed seropositive RA, anemia, and elevated inflammatory markers. Electrocardiogram and echocardiogram indicated dextrocardia, atrial fibrillation, and moderate mitral stenosis. This case highlights the unusual association of RA with valvular heart disease and the added complexity of dextrocardia. Recognizing diverse cardiac manifestations in RA is crucial, contributing to the growing evidence linking autoimmune disorders to cardiovascular complications. Further research is essential to understand the intricate relationship between RA and unique cardiac abnormalities.

Clinical characteristics and outcomes of patients with TSH-secreting pituitary adenoma and Graves’ disease - a case report and systematic review

BackgroundCoexistence of TSH-secreting pituitary adenoma (TSHoma) and Graves’ disease (GD) is rare and complicates the management decision.MethodsWe present a case of the co-existence of TSHoma and GD. In addition, we systematically searched articles describing TSHoma and GD in the same patient published until 20th March 2023, using Pubmed, Scopus and Embase.Case presentationA 46-year-old man presented with symptoms of thyrotoxicosis. His thyroid function tests showed serum TSH 3.35 (reference range 0.3–4.2) mIU/L, FT3 19.7 (3.7–6.4) pmol/L, and FT4 68.9 (11-23.3) pmol/L. The serum TSH receptor antibody was 11.5 mIU/L (positive at ≥ 1.75 mIU/L). Pituitary magnetic resonance imaging showed macroadenoma compressing the optic chiasm. The patient underwent trans-sphenoidal resection of pituitary adenoma. Postoperatively, he remained on maintenance carbimazole and octreotide.ResultsFourteen articles comprising 15 patients were identified from the systemic search. A total of 16 patients (including the current case) were included in the systematic review. The mean (± SD) age at diagnosis was 41 ± 13.6 years. The majority were females (75%). The median (IQR) TSH was 1.95 (0.12–5.5) mIU/L, the median (IQR) free T3 was 11.7 (7.6–19.7) pmol/L and the median (IQR) free T4 level was 47.6 (33.3–64.4) pmol/L. Ten (76.9%) patients had positive TSH receptor antibody levels. 84.6% had pituitary macroadenoma. Pituitary surgery was performed in 12 (75%) patients. At the last follow-up, 4 (25%) patients had complete resolution of symptoms after pituitary surgery, 3 (18.7%) were on maintenance treatment with thionamides for GD, 1 (6.25%) on beta-blockers and 1 (6.25%) on somatostatin analog.ConclusionTSHoma and GD can co-exist, and it is essential to identify this rare association as it can significantly impact treatment strategies.

Long QT Syndrome and WPW Syndrome: A Very Rare Association between Two Causes of Sudden Cardiac Death in a Young Patient

Long QT syndrome (LQT) and WPW syndrome are causes of sudden cardiac death (SCD) in the young, and their association has been rarely reported. A 26-year-old woman presented with recurrent syncope. Her ECG showed a short PR interval, wide QRS (150 ms) due to a delta wave, and QT prolongation (QT 580 ms, QTc 648 ms). ECG monitoring documented recurrent salvos of a self-terminating wide QRS tachycardia, generally slightly polymorphic, sometimes with “torsade des pointes” (TdP) appearance, which were linked to the syncopal/presyncope episodes. Electrophysiologic monitoring diagnosed a right para-hisian accessory pathway with a very short ERP (240 ms baseline, <200 ms after isoproterenol). The pathway was ablated successfully. Despite QRS narrowing (80 ms), QT prolongation persisted after ablation (QT 620 ms, QTc 654 ms), with short runs of TdP, despite beta-blocker treatment, which was increased to the maximal dosage. A dual-chamber implantable cardioverter defibrillator (ICD) was implanted. To our knowledge, this is the first case report of an association between LQT and WPW syndrome in which both conditions are associated with an increased risk of SCD.

Genetic architecture and biology of youth-onset type 2 diabetes

The prevalence of youth-onset type 2 diabetes (T2D) and childhood obesity has been rising steadily1, producing a growing public health concern1 that disproportionately affects minority groups2. The genetic basis of youth-onset T2D and its relationship to other forms of diabetes are unclear3. Here we report a detailed genetic characterization of youth-onset T2D by analysing exome sequences and common variant associations for 3,005 individuals with youth-onset T2D and 9,777 adult control participants matched for ancestry, including both males and females. We identify monogenic diabetes variants in 2.4% of individuals and three exome-wide significant (P < 2.6 × 10−6) gene-level associations (HNF1A, MC4R, ATXN2L). Furthermore, we report rare variant association enrichments within 25 gene sets related to obesity, monogenic diabetes and β-cell function. Many youth-onset T2D associations are shared with adult-onset T2D, but genetic risk factors of all frequencies—and rare variants in particular—are enriched within youth-onset T2D cases (5.0-fold increase in the rare variant and 3.4-fold increase in common variant genetic liability relative to adult-onset cases). The clinical presentation of participants with youth-onset T2D is influenced in part by the frequency of genetic risk factors within each individual. These findings portray youth-onset T2D as a heterogeneous disease situated on a spectrum between monogenic diabetes and adult-onset T2D.

Retraction: Mesenteric Panniculitis and COVID-19: A Rare Association.

[This retracts the article DOI: 10.7759/cureus.21314.].

Periprosthetic metastases in carcinoma of unknown primary: A rare association.

Septic or aseptic loosening may cause bone loss around artificial prosthesis leading to prosthesis failure. This occurrence due to metastatic infiltration of bone or surrounding soft tissues is rare but has been occasionally reported. We report a case of an elderly lady presenting with swelling and pain at the site of previous hemiarthroplasty performed for traumatic injury. On evaluation, she was found to have a lytic femur lesion with a large soft-tissue component around the prosthetic joint. Biopsy suggested a metastatic carcinoma of renal origin, but screening of kidneys did not reveal any primary lesion. She had additional skeletal metastatic lesions but no other primary site was detected either. She was given palliative radiotherapy and systemic therapy (sunitinib) based on the histologic diagnosis of renal cell origin but did not tolerate it. Thereafter, she is continuing on zoledronate every 4 weeks and best supportive management since 4 months from diagnosis.