LUMBAR syndrome-OEIS complex overlap: A case series and review.

We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.

Cloacal Diseases in Companion Parrots: A Retrospective Study of 43 Cases (2012-2018).

Cloacal disease is considered a common presenting complaint in companion parrots. The purpose of this study was to better characterize the prevalence of cloacal disease within a population of owned psittacine birds. Medical records of all owned parrots presented to an exotic animal specialty service between July 2012 and January 2018 were retrospectively reviewed for the presence of cloacal disease. Cloacal disease was identified in 43 of 1137 cases (3.8%). Cockatoos presented with cloacal disease significantly more often than other psittacine groups (P < .001). Female parrots presented with cloacal disease significantly more often than males and unsexed birds (P < .001). Cockatoos with cloacal disease predominantly presented with prolapse of the cloaca itself (P = .006). There was no significant difference in outcome based on taxonomic group, sex, or primary cloacal pathology. Prospective studies with parrot species are encouraged to have an increased understanding of the behavioral and medical conditions that result in cloacal disease. These studies would hopefully facilitate the development of better treatment options for this relatively common disease presentation.

Helicobacter monodelphidis sp. nov. and Helicobacter didelphidarum sp. nov., isolated from grey short-tailed opossums (Monodelphis domestica) with endemic cloacal prolapses.

In a search for potential causes of increased prolapse incidence in grey short-tailed opossum colonies, samples from the gastrointestinal tracts of 94 clinically normal opossums with rectal prolapses were screened for Helicobacter species by culture and PCR. Forty strains of two novel Helicobacter species which differed from the established Helicobacter taxa were isolated from opossums with and without prolapses. One of the Helicobacter species was spiral-shaped and urease-negative whereas the other Helicobacter strain had fusiform morphology with periplasmic fibres and was urease-positive. 16S rRNA gene sequence analysis revealed that all the isolates had over 99 % sequence identity with each other, and were most closely related to Helicobacter canadensis. Strains from the two novel Helicobacter species were subjected to gyrB and hsp60 gene and whole genome sequence analyses. These two novel Helicobacter species formed separate phylogenetic clades, divergent from other known Helicobacter species. The bacteria were confirmed as novel Helicobacter species based on digital DNA-DNA hybridization and average nucleotide identity analysis of their genomes, for which we propose the names Helicobacter monodelphidis sp. nov. with the type strain MIT 15-1451T (=LMG 29780T=NCTC 14189T) and Helicobacter didelphidarum sp. nov with type strain MIT 17-337T (=LMG 31024T=NCTC 14188T).

Development of a multidisciplinary colorectal and pelvic health program: Program implementation and clinical impact.

INTRODUCTION: Pediatric patients with complex colorectal and genitourinary conditions often require coordinated multidisciplinary care; however, this coordinated care can be hard to structure and deliver. The purpose of this paper is to review the development and implementation of a multidisciplinary colorectal and pelvic health program, one year after the program's initiation. METHODS: This is an observational retrospective 1-year study (10/1/2017 to 9/30/2018). In fiscal year (FY) 2018, a multidisciplinary colorectal and pelvic health program was initiated. The program development incorporated bimonthly team meetings, educational conferences, and initiation of three clinics: a complex colorectal and genitourinary reconstruction clinic, a bowel management clinic, and a colonic motility clinic. Conditions treated included complex anorectal and cloacal malformations, Hirschsprung disease, and idiopathic constipation. The fiscal year was selected to provide comparative administrative data after program implementation. RESULTS: During the study period, 121 patients underwent comprehensive collaborative evaluation of which 58 (47%) were new to the institution compared to 12 (19%) new patients in the previous year (p < 0.001). In FY 2018, there were 130 procedures performed and 512 collaborative visits with an average of 47 visits per month. This was a 3.4-fold increase in visits compared to FY2017 (171 visits). Of the new patients, 60% (35/58), traveled a median of 181 miles, representing 33 statewide counties, and 4 states compared to a median of 93 miles in the previous fiscal year (p = 0.004). CONCLUSION: The development of a colorectal and pelvic health program is feasible and requires a collaborative approach, necessitating multiple service lines within an institution. Program creation and implementation can result in rapid institutional clinical growth by filling a local and regional need through coordinated multidisciplinary care. LEVEL OF EVIDENCE: IV.

Cloacogenic Adenocarcinoma of the Vulva: A Case Report and Review of the Literature.

Primary adenocarcinoma of the vulva, unrelated to the native glands of perineum is an extremely rare neoplasm. Despite awareness of this lesion for over 40 years, the origin is not beyond speculation. The most reasonable hypothesis is based on the remnants of cloacal differentiation during early days of life. Here we report the case of a 60-year-old patient with a vulvar mass, who underwent partial vulvectomy and bilateral regional lymph node dissection. The tumor was composed of papillary and complex glandular structures and exhibited diffuse positivity for cytokeratin 20 and polyclonal CEA, CDX2, and focal positivity with cytokeratin 7. Unlike the indolent behavior of this malignant neoplasm according to the literature, we found two metastatic inguinal lymph nodes. She did not receive adjuvant therapy and is still alive, free of disease 38 months after surgery. We present different aspects of vulvar adenocarcinomas with a case report.

Diagnosis and Surgical Repair of an Acute Abdominal Wall Hernia and Partial Cloacal Strangulation in a Yellow-Naped Amazon Parrot (Amazona auropalliata).

A 38-year-old female, intact yellow-naped Amazon parrot (Amazona auropalliata) presented with an acute swelling along the ventrocaudal body wall, hematochezia, and tenesmus. Physical examination identified a defect in the ventral body wall. Bimodal pain management was initiated at presentation and hematochezia and tenesmus resolved. Radiographic imaging and contrast fluoroscopy identified a partial cloacal strangulation. An exploratory celiotomy was performed. Adhesions to the body wall were identified and broken down, the cloacal position was corrected, and the abdominal musculature repaired. Contrast fluoroscopy performed 72 hours after surgery confirmed normal positioning of the cloaca. Follow-up examinations documented proper postoperative healing of the hernia repair and maintenance of visibly normal passage of droppings. Although various abdominal hernias have been described in birds, this case demonstrates an unreported variation involving partial cloacal strangulation in a parrot.

Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review.

BACKGROUND: Fibronectin glomerulopathy is a rare, inherited, autosomal dominant, glomerular disease characterized by proteinuria, microscopic hematuria, hypertension, massive glomerular deposits of fibronectin, and slow progression to end-stage renal failure. Because the incident of fibronectin glomerulopathy is extremely low, the pathophysiology, genetic abnormalities, epidemiology, and mechanisms remain to be elucidated. CASE PRESENTATION: We report a 21-year-old woman with fibronectin glomerulopathy, who had been diagnosed with persistent cloaca and congenital esophageal atresia at birth. She developed proteinuria and hematuria 7 months before admission. Urinary protein and serum creatinine levels were 3.38 g/gCr and 0.73 mg/dL. Renal biopsy showed severe mesangial widening due to massive deposits, which was positive periodic acid-Schiff and negative methenamine silver. Immunostaining was negative for immunoglobulin but positive for fibronectin. Electron microscopy showed diffuse mesangial granular deposits. Thus she was diagnosed with fibronectin glomerulopathy, despite a negative family history of kidney disease and lack of any known missense mutations of fibronectin 1 gene. CONCLUSION: We report a patient who developed fibronectin glomerulopathy during the clinical course of extremely rare congenital malformations, including persistent cloaca and congenital esophageal atresia. We describe a case of this condition in detail and summarize the 75 case reports of fibronectin glomerulopathy.

Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population.

BACKGROUND: Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach. MATERIALS AND METHODS: In all eight family members of a non-consanguineous Chinese family, we performed whole-exome sequencing. Subsequently, exome sequencing of MYH14 in 72 unrelated probands with ARMs was performed. The accurate distribution of non-muscle myosin II heavy chain (NMHC II) was investigated by immunohistochemistry in serial sagittal sections of E11.5-13.5 mouse cloacal regions. RESULTS: A homozygous mutation in MYH14 was identified in the two siblings of family 1. Compound heterozygous MYH14 changes were identified in an unrelated individual. Immunohistochemical analysis suggest stronger NMHC IIC localization in the epithelium of the murine embryonic cloaca, urorectal septum and hindgut compared with another two NMHC II isoforms. CONCLUSION: This is the first identification of mutations in MYH14 as a cause of ARMs. The stronger localization of NMHC IIC in E11.5-13.5 mouse cloacal regions further supports the role of MYH14 in anorectal development.

Cloacal Prolapse in Raptors: Review of 16 Cases.

Sixteen cases of cloacal prolapse in raptors were reviewed in this study. Colonic prolapse was the most common presentation (56% of cases). Red-tailed hawks ( Buteo jamaicensis ) were overrepresented, comprising 66% of colonic prolapse cases. In cases of colonic prolapse, postsurgical stricture formation was a commonly identified complication after resection and anastomosis of the colon. A novel technique was used in 2 cases of colonic prolapse, in which sterile, semirigid rubber tubing was placed in the distal colon and removed per-cloaca at the end of the procedure; this facilitated a secure, fluid-tight anastomosis while maintaining sufficient intestinal lumen. Oviductal prolapse (31% of cases) was associated with the most guarded prognosis (40% treatment success). Cloacoliths were treated successfully in 2 birds (13% of cases) by minimally invasive per-cloacal manual removal.

Cloacal dysgenesis sequence with bilateral renal agenesis and normal pulmonary development in twin pregnancy.

Cloacal dysgenesis sequence (CDS) is a rare congenital anomaly. It is characterised by a smooth perineum with absence of anal and genitourinary orifices, with reported incidence of 1:50,000-250,000 births. Association with bilateral renal agenesis is still rarer and resultant severe oligohydramnios is associated with pulmonary hypoplasia. Only a few cases of CDS with bilateral renal agenesis have been reported in the English language literature, with associated pulmonary hypoplasia as a default phenomenon. We report a case of CDS and bilateral renal agenesis without associated pulmonary hypoplasia in a twin pregnancy, which, to the best of our knowledge, is the second reported case of this amalgamation.

Primary mucinous carcinoma of the vulva with signet ring cells deriving from the cloaca.

Vulvar neoplasias are rarely encountered lesions at female genital tract, regardless if they are primary or metastatic. Presence of signet ring cells in a tumour at female genito-urinary tract is highly suggestive of a metastatic lesion particularly from a gastrointestinal tumour. Here the authors present a case of vulvar carcinoma with signet ring cells with an undetermined primary site possibly originating from embryonic cloaca.

UNSEDATED COMPUTED TOMOGRAPHY FOR DIAGNOSIS OF PELVIC CANAL OBSTRUCTION IN A LEOPARD GECKO (EUBLEPHARIS MACULARIUS).

An adult leopard gecko ( Eublepharis macularius ) presented for lethargy, hyporexia, weight loss, decreased passage of waste, and a palpable caudal coelomic mass. Computed tomography showed a heterogeneous hyperattenuating (∼143 Hounsfield units) structure within the right caudal coelom. The distal colon-coprodeum lumen or urinary bladder was hypothesized as the most likely location for the heterogeneous structure. Medical support consisted of warm water and lubricant enema, as well as a heated environment. Medical intervention aided the passage of a plug comprised centrally of cholesterol and urates with peripheral stratified layers of fibrin, macrophages, heterophils, and bacteria. Within 24 hr, a follow-up computed tomography scan showed resolution of the pelvic canal plug.

RENAL AND CLOACAL CRYPTOSPORIDIOSIS (CRYPTOSPORIDIUM AVIAN GENOTYPE V) IN A MAJOR MITCHELL'S COCKATOO (LOPHOCHROA LEADBEATERI).

A 7-yr-old male Major Mitchell's cockatoo (Lophochroa leadbeateri) presented with a recent history of lethargy and anorexia. Physical examination revealed poor body condition and cloacal prolapse. Abnormalities on serum chemistry included severe hyperuricemia and hyperphosphatemia with a low calcium-to-phosphorus ratio. Symptomatic treatment was initiated including intravenous fluids and antibiotics. The bird continued to decline and died within a few days. Visceral gout and renal and cloacal pathology were observed on gross necropsy. Histopathology revealed chronic inflammation within the kidney, ureter, and cloaca in association with protozoal organisms and an invasive cloacal adenocarcinoma tumor. The location and morphology was consistent with Cryptosporidium sp., confirmed by immunohistochemistry and molecular testing. Direct sequencing identified Cryptosporidium avian genotype V. To the author's knowledge, this is the first reported infection of Cryptosporidium avian genotype V associated with clinical disease in birds and the first renal Cryptosporidium infection in a psittacine.

Monitoring free-living Japanese Bush Warblers (Cettia diphone) in a most highly radiocontaminated area of Fukushima Prefecture, Japan.

The Fukushima-Daiichi Nuclear Power Plant (F1NPP) accident is an IAEA level 7 event, the same as that of Chernobyl, while the amount of radionuclides released is not comparable. Radioactivity attributed to the F1NPP accident was detected 250 km away from the F1NPP. Although we have not yet systematically studied the effect of radionuclides on the environment and wildlife, one of three Japanese Bush Warblers (Cettia diphone), captured in Akaugi district in August 2011, was observed to have a conspicuous lesion near the cloaca, which is rare in Japan. All of the birds' feathers were strongly contaminated. Further study is needed to determine the significance of this result. We emphasize the importance of continuing assessment of the effects of the F1NPP accident on wildlife.

Exudative cloacitis in the kakapo (Strigops habroptilus) potentially linked to Escherichia coli infection.

AIM: To investigate the initiating causes of cloacitis (inflammation of the cloaca) in kakapo (Strigops habroptilus). METHODS: Metagenomics using unbiased RNA or DNA sequencing was applied to faecal material from an 11-year-old female kakapo with exudative cloacitis, and a pool of eight birds (male and female aged 1-20 years) with no current signs or history of the disease. Faecal material from the diseased bird was collected pre- and post-treatment. For RNA sequencing, extracted RNA/DNA was subject to DNase, and the remaining RNA reverse transcribed to cDNA and subject to multiple displacement amplification prior to sequencing. RESULTS: No significant alignment to any known avian virus sequence was obtained from any faecal samples. However significant BLAST alignments to five bacteriophages known to infect enterobacteria were obtained. Strong evidence was obtained for the presence of the bacteriophage Escherichia phage TL-2011b, a bacteriophage known to occur in Escherichia coli causing outbreaks of foodborne disease in humans, in the sample from the diseased bird, but not the non-diseased pool. Differences in E. coli community structure between the diseased bird and the non-diseased pool were also apparent. CONCLUSIONS: Escherichia coli infection of human origin is suggested as a possible cause of exudative cloacitis, although confirmatory work is required to test this hypothesis.

Nephric duct insertion requires EphA4/EphA7 signaling from the pericloacal mesenchyme.

The vesico-ureteric junction (VUJ) forms through a complex developmental program that connects the primordium of the upper urinary tract [the nephric duct (ND)] with that of the lower urinary tract (the cloaca). The signals that orchestrate the various tissue interactions in this program are poorly understood. Here, we show that two members of the EphA subfamily of receptor tyrosine kinases, EphA4 and EphA7, are specifically expressed in the mesenchyme surrounding the caudal ND and the cloaca, and that Epha4(-/-);Epha7(+/-) and Epha4(-/-);Epha7(-/-) (DKO) mice display distal ureter malformations including ureterocele, blind and ectopically ending ureters with associated hydroureter, megaureter and hydronephrosis. We trace these defects to a late or absent fusion of the ND with the cloaca. In DKO embryos, the ND extends normally and approaches the cloaca but the tip subsequently looses its integrity. Expression of Gata3 and Lhx1 and their downstream target Ret is severely reduced in the caudal ND. Conditional deletion of ephrin B2 from the ND largely phenocopies these changes, suggesting that EphA4/EphA7 from the pericloacal mesenchyme signal via ephrin B2 to mediate ND insertion. Disturbed activity of this signaling module may entail defects of the VUJ, which are frequent in the spectrum of congenital anomalies of the kidney and the urinary tract (CAKUT) in human newborns.

Cloacolithiasis and intestinal lymphosarcoma in an African black-footed penguin (Spheniscus demersus).

A 13-yr-old male African black-footed penguin (Spheniscus demersus) presented thrice over 7 mo with gastrointestinal obstruction secondary to cloacolithiasis. Clinical signs consistently resolved with cloacolith removal and supportive care. However, 10 mo after initial presentation, it presented with similar signs, plus significant weight loss. No cloacolith was found, and it subsequently died. Significant gross findings included bilateral cecal masses, colonic perforation, and marked secondary coelomitis, multifocal tan to pale hepatic nodules, and pale kidneys with miliary white foci. Histopathologic diagnoses were intestinal lymphosarcoma with hepatic and renal metastases, secondary intestinal rupture, and subacute severe bacterial coelomitis. To the authors' knowledge, this is the first full report of either cloacolithiasis or lymphosarcoma in a penguin.

[First detection of psittacid herpesvirus 2 in Congo African grey parrots (Psittacus erithacus erithacus) associated with pharyngeal papillomas and cloacal inflammation in Germany]. / Erste Nachweise des Psittacid Herpesvirus 2 bei Kongo-Graupapageien (Psittacus erithacus erithacus) mit papillomatösen Rachenveränderungen und Kloakenentzündungen in Deutschland.

Congo African Grey Parrots (GP; Psittacus erithacus erithacus) from four different avicultures, presented in the Clinic for Exotic Pets, Reptiles and Birds, University of Veterinary Medicine Hannover, Foundation, showed choanal papillomas or hyperemia of the cloacal mucosa. Histologically, the mucosal choanal proliferations were diagnosed as exophytic papillomas and a mild hyperplasia of the cloacal mucosa with lympho-histiocytic inflammation with no visible inclusion bodies was found. Herpesvirus genome was detected by nested PCR in pooled choanal and cloacal swabs from clinically diseased parrots and healthy contact animals. Sequencing of parts of the herpesvirus DNA-polymerase gene indicated 98-100% homology of the detected herpesviruses with the Psittacid Herpesvirus 2 (PsHV-2). In one aviculture with cloacal inflammation papillomavirus-DNA was concurrently found to a PsHV-2 infection. In addition to the four avicultures with clinical symptoms 25 more flocks of grey parrots, in total 57 Congo-GP and 13 Timneh-GP, were examined for a herpesvirus infection. A total of six out of 29 studied parrot avicultures were tested positive for PsHV-2. The detection of this virus also in flocks of GP, which were bred in Europe, shows the establishment of this infection in the GP population in captivity. As indicated in the literature as well as in our study PsHV-2 could be only detected in Congo-GP, independently if they were kept either alone or in mixed avicultures with amazon and macaw species. These findings suggest that PsHV-2 is adapted to this Psittacus species.

Comparison of vaccine subpopulation selection, viral loads, vaccine virus persistence in trachea and cloaca, and mucosal antibody responses after vaccination with two different Arkansas Delmarva Poultry Industry -derived infectious bronchitis virus vaccines.

Factors responsible for the persistence of Arkansas Delmarva Poultry Industry (ArkDPI)-derived infectious bronchitis vaccines in commercial flocks and the high frequency of isolation of ArkDPI-type infectious bronchitis viruses in respiratory cases are still unclear. We compared dynamics of vaccine viral subpopulations, viral loads, persistence in trachea and cloaca, and the magnitude of infectious bronchitis virus (1BV)-specific antibody induction after vaccination with two commercial ArkDPI-derived Arkansas (Ark) serotype vaccines. One of the vaccines (coded vaccine B) produced significantly higher vaccine virus heterogeneity in vaccinated chickens than the other vaccine (coded A). Chickens vaccinated with vaccine B had significantly higher viral loads in tears at 5 days postvaccination (DPV) than those vaccinated with vaccine A. Vaccine B also induced a significantly higher lachrymal immunoglobulin M response at 11 DPV, an earlier peak of IBV-specific lachrymal immunoglobulin A, and higher serum antibodies than vaccine A. In addition, a significantly higher proportion of birds vaccinated with vaccine B had vaccine virus detected in the trachea at 20 DPV than those vaccinated with vaccine A. Furthermore, the virus detected at 20 DPV in most of the chickens vaccinated with vaccine B was a single specific subpopulation (subpopulation 4) selected from multiple vaccine subpopulations detected earlier at 5 and 7 DPV in the same chickens. On the other hand, a higher proportion of chickens vaccinated with vaccine A had virus detected in cloacal swabs at 20 DPV. Thus we found differences in mucosal antibody induction and selection and persistence of vaccine viruses between two ArkDPI-derived vaccines from different manufacturers. The higher vaccine virus heterogeneity observed in chickens vaccinated with vaccine B compared with those vaccinated with vaccine A may be responsible for these differences. Thus the high frequency of Ark IBV viruses in the field may be due to the inherent ability of some ArkDPI-derived vaccine viruses to be selected and persist in vaccinated chickens. Vaccine virus persistence may offer genetic material for recombination or may undergo mutations with the potential to result in increased virulence.

Does common channel length affect surgical choice in female congenital adrenal hyperplasia patients?

OBJECTIVE: Partial/total urogenital sinus mobilization (UGSM) is one of the recommended techniques for treatment of female congenital adrenal hyperplasia (CAH). In this study we compared the length of common channel (CC) and type of operation performed in CAH patients. PATIENTS AND METHODS: We retrospectively analyzed data of patients receiving surgery for female CAH. Patients were separated into three groups: group 1 had partial UGSM, group 2 had total UGSM, and group 3 had total UGSM plus the vaginal anterior wall was made from CC. Age at surgery, length of CC, surgical time, follow-up time, and complications were compared. RESULTS: There were a total of 29 patients. For groups 1, 2, and 3, the average age at surgery was 47.2 months, 14.4 months, and 21.3 months, respectively, and the average CC length was 1.25 cm, 3.1 cm, 4.3 cm, respectively. The average time of surgery was 165 min, 193.1 min, 282.5 min, respectively. The average follow-up time was 34.7 months, 36.3 months, 28.3 months, respectively. There were two complications (UGS flap necrosis and opening of sutures) in the third group. CONCLUSION: We advise the use of partial UGSM for CC of 0.5-2 cm, total UGSM for CC of 2.5-3.5 cm, and total USM with use of CC as the anterior vaginal wall in CC ≥ 4 cm in length. Good cosmetic and functional results are obtained with this approach.