Dysplasia Type Research Articles

Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center’s Experience With a Mean 9-Year Follow-Up

BackgroundTotal knee arthroplasty (TKA) in patients who have skeletal dysplasia (SD) is a technically challenging surgery due to deformity, joint contracture, and associated comorbidities. Patients presenting with this condition have traditionally been treated with conservative measures, leading to poor outcomes. The aim of this study was to follow-up on patients who had SD following TKA, specifically with regards to clinical outcomes. MethodsA total of 31 knees (22 patients) with SD that had undergone TKA in our institution were included in our study. The mean follow-up from index surgery was 110.3 months (range: 20 to 291). The type of dysplasia, implant used, and clinical outcomes with patient-reported outcome measures are presented. ResultsThere were 8 patients (36.3%) who had a diagnosis of achondroplasia, followed by multiple epiphyseal dysplasia (31.8%) and spondyloepiphyseal dysplasia (22.7%). There were 14 men and 8 women who had a mean age of 51 years (range: 28 to 73). Custom implants were required in 12 cases (38.7%), custom jigs were used in 6 cases (19.4%), and robotic-assisted surgery was used in 2 (6.5%) TKAs. Hinged prostheses were used in 17 cases (54.8%), posterior-stabilized in 9 (29.0%), and cruciate-retaining implants in 5 (16.1%). There was 1 patient who sustained an intraoperative medial tibial plateau fracture treated with concomitant open reduction and internal fixation. There was 1 revision that occurred during the follow-up period with a patella resurfacing for continued anterior knee pain. Postoperatively, Oxford Knee Scores improved on average by 12.2 points. The 10-year and 20-year all-cause revision-free survival was 96.8, respectively. ConclusionsDespite the technical challenges and complexity associated with this unique patient cohort, we demonstrated excellent implant survivorship and clinical outcomes post-TKA with mid-term to long-term follow-up of more than 20 years. We recommend preoperative cross-sectional imaging for precise planning and implant templating with multidisciplinary team decision-making. Despite our results, functional outcomes remain inferior to primary arthroplasty within the general population, although we still recommend this treatment modality to appropriately counseled patients. Level of EvidenceIII.

DOP28 Yield of surveillance colonoscopy in patients with Primary Sclerosing Cholangitis

Abstract Background Patients with primary sclerosing cholangitis (PSC) have a higher risk of developing colorectal cancer (CRC), in particular in patients with concurrent diagnosis of inflammatory bowel disease (IBD). Therefore, strict surveillance colonoscopy in patients with PSC and PSC-IBD is recommended with consideration of random biopsies. The aim of this study was to assess the method and yield of surveillance colonoscopy in patients with PSC and PSC-IBD in routine practice in the Netherlands. Methods An observational cohort study was performed within the EpiPSC2 cohort in The Netherlands. Patients with a confirmed PSC diagnosis were included from January 2008 onwards. Data were collected retrospectively from the date of diagnosis until inclusion, and prospectively from that date forward. Patient demographics, PSC and IBD disease characteristics were collected at study inclusion and during annual follow-up. For this study, data collection was expanded retrospectively with colonoscopy and pathology reports. Outcomes were endoscopic surveillance technique, whether random or targeted biopsies were taken, if polypectomy was performed, dysplasia detection rate and type of dysplasia. Results The study population included 1,203 PSC patients, of whom 82.1% had large duct PSC, and 70.6% concomitant IBD (table 1). A total of 4,099 colonoscopies were performed in 759 individual patients, with a median of 4 colonoscopies per patient (IQR 2 – 8). The median follow-up duration was 11 years (IQR 12 – 17). In total, 11.5% (n=473) of colonoscopies were performed with chromo-endoscopy. Among the conducted colonoscopies, 2,543 included biopsies, 355 involved polypectomies, and 86 comprised both biopsies and polypectomies. Dysplasia was identified in 11.4% (341 out of 2,984) of the colonoscopies, including 14.1% indefinite for dysplasia (n=48), 75.1% low grade dysplasia (n=256), 7.6% high grade dysplasia (n=26), and 5.9% adenocarcinoma (n=20). The detection of dysplasia occurred through random biopsies in 89 colonoscopies (26.1%), targeted biopsies in 114 colonoscopies (33.4%) and polypectomy in 153 colonoscopies (44.9%) (figure 1). Dysplasia was observed in 195 (26%) individual patients, of whom 80.5% had PSC-IBD. Conclusion Our data highlights the importance of colonoscopic surveillance in PSC and PSC-IBD patients. Dysplasia was detected in over a quarter of patients undergoing surveillance colonoscopy. Notably, 26.1% of dysplasia cases were identified through random biopsies, emphasizing the importance of incorporating random biopsies into surveillance protocols for this specific patient population.

Does pelvic tilt change with a peri-acetabular osteotomy?

Change in pelvic tilt (PT) during and after peri-acetabular osteotomy (PAO) is important for surgical planning. The aims of this study were to (i) determine how PT varies throughout the course of treatment in patients undergoing PAO, (ii) test what factors influence the change in PT and (iii) assess whether changes in PT influenced achieved correction. This is an retrospective, single-centre, consecutive case series of 111 patients treated with PAO for global (n = 79), posterior (n = 49) or anterior dysplasia (n = 6) (mean age: 27.3 ± 7.7 years; 85% females). PT was determined on supine, anteroposterior pelvic radiographs pre-, intra-, 1 day, 6 weeks and 1 year post-operatively, using the sacro-femoral-pubic (SFP) angle, a validated, surrogate marker of PT. An optimal acetabular correction was based on the lateral centre-edge angle (25°-40°), acetabular index (-5° to 10°) and cross-over ratio (<20%). There was a significant difference across pre- (70.1° ± 4.8°), 1-day (71.7° ± 4.3°; P < 0.001) and early post-operative SFP (70.6° ± 4.7°; P = 0.004). The difference in SPF between pre-operative and 1-year post-operative was -0.5° ± 3.1° (P = 0.043), with 9% of cases having a difference of >5°. The difference in SFP did not correlate with age, sex, body mass index, type of dysplasia or achievement of optimal acetabular correction (P = 0.1-0.9). In the early post-operative period, PT is reduced, leading to a relative appearance of acetabular retroversion, which gradually corrects and is restored by annual follow-up. The degree of change in PT during PAO did not adversely affect fragment orientation. PT does not significantly change in most patients undergoing PAO and therefore does not appear to be a compensatory mechanism.

Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.

Renal-hepatic-pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional variation to the phenotype. Many patients reported are within larger cohorts of congenital anomalies of kidney and urinary tract (CAKUT) or liver failure, and with minimal phenotypic and clinical course data. An independent series of phenotypes and prognosis was aggregated from the literature. In this literature review, we describe an additional patient with RHPD2, provide a clinical update on the oldest known living patient, and report the cumulative phenotypes from the existing published patients. With now examining the 17 known patients in the literature, 13 died within the perinatal period-pregnancy to one year of life. Of the four cases living past the first year of life, one case died at 5 years secondary to renal failure, the other at 30 months secondary to liver and kidney failure. Two are currently alive and well at one year and 13 years. Two cases have had transplantation with one resulting in long-term survival. These patients serve to expand the existing phenotype of RHPD2 as a perinatal lethal condition into a pediatric disorder with variable expressivity. Additionally, we introduce the consideration of transplantation and outcomes within this cohort and future patients.

Clinical case of a patient with focal cortical dysplasia IIa adjacent to the speech center: diagnostic and therapeutic algorithms

A clinical case of a patient with pharmacoresistant epilepsy due to focal cortical dysplasia (PCD) directly adjacent to the speech zone in the left temporal region is presented. The diagnostic search and transition from MRI-negative form to structural focal epilepsy progressed for more than 6 years. It was accounted for by the fact that type IIa vs. IIb FCD is visualized much worse, magnetic resonance imaging (MRI) signs of type IIa FCD are not so prominent, so that this type of dysplasia is often omitted. Functional research methods in epileptology, such as video-electroencephalography monitoring, brain positron emission tomography with 18F-fluorodeoxyglucose, functional MRI of speech zones, allow to more accurately verify the form of epilepsy and determine a scope of surgical treatment. Surgical intervention in carefully selected patients may contribute to favorable outcome of epilepsy (Engel 1, 51-months follow-up), which will lead to improved quality of life.

Association of trochlear dysplasia with knee meniscal–cartilage damage and anterior cruciate ligament mucoid degeneration

The purpose of this study was to evaluate meniscal and tibiofemoral cartilage injury in patients with trochlear dysplasia (TD) and investigate whether there were correlations between TD grade and meniscal and cartilage injury. In addition, the relationship between TD and mucoid degeneration of the anterior cruciate ligament (ACL-MD) was investigated. MATERİALS AND METHODS: Magnetic resonance imaging (MRI) examinations of 133 patients with TD were included in the study. TD was graded (types A, B, C, D). The tibial tuberosity (TT)-TG distance was also measured. The ACL was assessed for ACL-MD. Both menisci were evaluated for the degeneration and tears. Medial-lateral tibial plateau (MTP-LTP), medial-lateral femoral condyles (MFC-LFC), and trochlear cartilage were examined for focal cartilage defect (FCD). ACL-MD was present in 42 of the patients with TD (31.6%). There was a significant positive relationship between ACL-MD and TT-TG distance. Meniscal tear was detected in 40 (30.1%) of all patients. FCD were detected in the tibiofemoral compartments in 41 (30.8%) of 133 patients. There was a significant positive relationship between the presence of FCD in the LFC and the type of TD (p<0.01). FCD was present in the LFC of all cases in the type D. A significant positive relationship was found between the TT-TG distance and the presence of FCD, especially in the anterior part of LFC (p<0.01). There was a significant relationship between the lateral trochlear cartilage defect and the type of dysplasia (p=0.037). CONCLUSİON: TD is a significant risk factor for ACL-MD, meniscal, and tibiofemoral cartilage injury.

Hip arthroscopy after periacetabular osteotomy for acetabular dysplasia – incidence and clinical outcome

BackgroundThe periacetabular osteotomy (PAO) is the treatment of choice for acetabular dysplasia and has demonstrated improvement in patient reported outcomes measures (PROMs) as well as acceptable long-term survival. However, acetabular dysplasia is also associated with intra-articular lesions that can negatively impact clinical outcome. This study aimed to analyse the incidence, operative findings, and outcomes of hip arthroscopy after PAO.MethodsThis is a single center retrospective study by querying our hip preservation prospectively collected database from 2006 to 2020. All patients having undergone hip arthroscopy after a PAO, with a minimal follow-up of one year, were identified. 202 PAOs were done with a mean age of 28.3 years (12.7 – 53.6) including 39 males and 167 females. Failure was defined as conversion to hip replacement. Demographics, surgical findings, reoperations, and PROMs (pre and post operatively at the last follow-up point only for hips not converted to hip replacement).ResultsFifteen hips in 15 patients (7.4%) out of 202 PAOs underwent a hip arthroscopy at a mean time of 3.9 years (0.3–10.3) after PAO. There were 2 males, 13 females and the mean age was 29.8 years (18.5–45). 12 hips had no radiological osteoarthritis (Tönnis 0) and 3 hips had early osteoarthritis (Tönnis 1). At time of arthroscopy, all hips had a labral tear, 9 had a chondral damage ≥ Beck 4. Eight hips had labral debridement, 7 had labral repair, 2 had resection of adhesions and 4 underwent a femoral osteochondroplasty. Four hips (27%) were converted to a hip replacement at a mean time of 1.8 years(0.5–3.2) after hip arthroscopy. Patients converted to hip replacement were significantly older (p = 0.01), had a lower post-PAO LCEA (p = 0.01) and a higher post-PAO Tönnis angle (p = 0.02). There were no significant improvements in PROMs.ConclusionThis study reports a hip arthroscopy reoperation rate after PAO of 7.4%. All three types of dysplasia (uncovered anteriorly, posteriorly, or globally) were present in this cohort. Twenty seven percent of patients were converted to hip replacement and PROMs were not significantly improved by hip arthroscopy. Therefore, this procedure should be approached with some caution.

On the classification of spondylometaphyseal dysplasias: spondylophysial-metaphyseal dysplasia

A clinical and radiological analysis of 107 cases of hereditary systemic diseases of the skeleton with a predominant lesion of the germ (fizar) and metaphyseal zones, which are combined into the group "spondylophysial-metaphyseal dysplasia", was carried out. Changes in the skeleton were traced in dynamics, the age of the observed patients was from 1 to 16 years. Three types of spondylophysial-metaphyseal dysplasia have been identified, depending on the degree of damage to the fizar and metaphyseal zones and its predominant localization: A (with a predominant lesion of the hip joints), B (with a predominant lesion of the spine) and C (with a uniform lesion of the spine and long bones)

Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the &lt;i&gt;COMP&lt;/i&gt; gene in children

Background. Multiple epiphysal dysplasia (MED) type 1 (OMIM: 132400) is one of 7 genetic variants of this group of skeletal dysplasias described to date. The disease is caused by mutations in the COMP gene located on chromosome 19p13.1. The presence of muscle hypotonia and ligamentous laxity, as well as a moderate increase in the level of creatinephosphokinase activity, can lead to misdiagnosis of myopathy.Objective: to analyze the clinical and genetic characteristics of type 1 MED caused by mutations in the COMP gene in a series of Russian patients. Differential diagnosis was focused on the distinctive features of the disorder and hereditary myopathies.Materials and methods. We observed 8 patients from 7 families aged 7 to 15 years with MED type 1 caused by heterozygous mutations in the COMP gene. To confirm the diagnosis, the following methods were used: genealogical analysis, clinical examination, neurological examination with psycho-emotional testing, radiography and targeted sequencing of a panel consisting of 166 genes responsible for the development of inherited skeletal pathology.Results. Case history, clinical, radiological and genetic characteristics of 8 patients with MED type 1 caused by mutations in the COMP gene were analyzed. The first clinical manifestations of the disease were recorded from the age of 2–3 years and were characterized by gait disturbances, muscle weakness, difficulties with climbing stairs, frequent falls when walking, the inability to get up from the floor and from a squatting position and hypermobility of the joints. Electroneuromyographic study did not reveal the signs of miopathy. In two patients, a moderate increase in the creatinekinase level of up to 250–360 u / l was found. All patients were surveyed by neurologists for several years with a clinical diagnosis of congenital myopathy. At the age of 5–6 years patients COMPlained knee and ankle pain, which was assumed as rheumatic arthropathy. X-ray examination revealed typical signs of deficient ossification of the epiphyses. The next-generation sequencing analysis revealed seven single nucleotide variants in the COMP gene that lead to MED type 1. Three of the found variants here identified for the first time. As previously described, the majority of nucleotide variants (six out of seven) were localized in the 8–14 exons of the COMP gene and led to amino acid substitutions in calmodulin-like protein domain repeats, and only one substitution was localized in the C-terminal region of the protein molecule.Conclusion. In most patients with MED caused by mutations in the COMP gene, the first symptoms of the disease are gait disturbance, muscle weakness, and Gowers» maneuvers. The presence of these symptoms, along with a moderate increase in the level of creatinephosphokinase activity, often precedes the onset of clinical manifestations of skeletal dysplasia, leading to a misdiagnosis with myopathies. Accession of expressive arthralgias to these symptoms was mistakenly identified as reactive arthritis. X-ray examination of patients’ long bones helps to suspect the presence of MED. This X-ray imaging shows specific signs of epiphyses damage. A molecular-genetic analysis needs to be done to diagnose the genetic variant, caused by mutations in gene COMP.

Trochleoplasty in the Pediatric Population - A Systematic Review of Patient Characteristics, Treatment Strategies and Outcomes

Background:Trochleoplasty is a treatment considered for patellofemoral instability patients with high grade dysplasia and those who have failed other surgical intervention. However, the indications for and the safety profile of this procedure remain unclear, particularly in the pediatric population where concerns exist regarding physeal arrest and the development of premature patellofemoral arthritis.Purpose:To systematically review the literature to evaluate trochleoplasty use, outcomes and complications observed among pediatric patients.Methods:A systematic review was performed in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines reviewing Pubmed and SCOPUS databases. Inclusion criteria were studies including pediatric (<18yo) patients undergoing trochleoplasty with either a mean age <18 or those in which individualized patient characteristics and resultant outcomes were reported. Patient demographics, dysplasia type, procedure type and patient outcomes were abstracted when available and summarized with descriptive statistics.Results:Our search strategy identified 4 studies published from 2016-2020 that included 86 patients (mean age=14.5yo) with a mean follow up of 31.6 months (range 12-60 months). All were classified as Level IV evidence. The majority (65%) of patients were Dejour B (56/86). A thin-flap technique was used in three studies while a lateral wedge augmentation procedure was utilized in the fourth. Kujala and Lysholm scores were collected in two studies with demonstrable patient improvement. The most common early complication noted was arthrofibrosis requiring arthroscopic lysis of adhesions (5 total patients). Only a single recurrent instability event was reported. In a single study, 4 of 23 patients had radiographic trochlear osteoarthritic changes at 5 years postoperatively. There were no reports of premature physeal arrest in two studies that monitored for this outcome.Conclusion:There remains a limited evidence base regarding trochleoplasty use in pediatric patients. Overall, favorable outcomes have been observed with infrequent recurrent instability. There are no reports of growth disturbance from physeal arrest as a result of this procedure identified, but reporting among patients with confirmed skeletal immaturity is scarce. Patellofemoral arthritic changes were observed radiographically in a small subgroup of patients, but further work is necessary to determine if this is a result of the procedure itself or the underlying pathology being treated. As interest grows in implementing trochleoplasty in the pediatric population and potentially skeletally immature individuals, improved evidence is necessary to determine the incidence of major complications in order to better define the safety profile and indications for use in children and adolescents.

Pelvic osteotomies in hip dysplasia: why, when and how?

Acetabular dysplasia is a significant problem in the spectrum of developmental dysplasia of hip. In a younger child, positioning the femoral head into the acetabulum helps in reciprocal remodeling of the acetabulum and correction of dysplasia. In an older child, the remodeling potential is limited and often the acetabular dysplasia needs surgical intervention in the form of a pelvic osteotomy.Thus, pelvic osteotomy forms an integral part of surgical management of hip dysplasia. The ultimate goal of these osteotomies is to preclude or postpone the development of osteoarthritis and add more years of life to the native hip.Pelvic osteotomies play a pivotal role in normalizing hip morphology. The choice of pelvic osteotomy depends on the age of a child, the type of dysplasia and the status of the tri-radiate cartilage.Several types of re-directional and reshaping pelvic osteotomies have been described in the literature to improve the stability and restore the anatomy and biomechanics of the dysplastic hip.This article attempts to review the current indications for various pelvic osteotomies with a brief description of their techniques along with the outcomes and complications published thus far. Besides, the guidelines to choose the right pelvic osteotomy are also provided.

Vulvar intraepithelial neoplasia. Literature review

Vulvar intraepithelial neoplasia (VIN) is the proliferation of atypical basal cells in the vulvar epithelium. The global VIN incidence has recently doubled; its incidence among white women under 35 years of age has almost tripled with a tendency for further growth. Such an increase in the number of usual-type VIN cases in young women is primarily attributed to infection with highly oncogenic human papillomavirus. The second type of dysplasia, namely differentiated VIN, is usually found in older women and is associated with chronic dystrophic diseases of the vulva, most frequently with lichen sclerosus of the vulva. VIN diagnosis is quite challenging; no screening programs for this disorder have been developed so far. Patients with VIN practice self-treatment for a long time, which aggravates their condition and might trigger the development of vulvar cancer. Several treatment options are currently available; however, their efficacy worldwide is not high.

Arterial spin labeling for presurgical localization of refractory frontal lobe epilepsy in children

BackgroundEpilepsy is one of the most common chronic neurological diseases. Despite the great variety and prevalence of antiepileptic drug treatments, one-third of epilepsies remain drug resistant. The frontal lobe is extensive, and frontal lobe seizures are difficult to locate, which increases the difficulty of the preoperative localization of the epileptogenic zone.Case presentationTwo previously healthy girls with refractory frontal lobe epilepsy showed significant perfusion abnormalities in the right frontal lobe using the cerebral blood perfusion (CBF) quantitative analysis system. They became seizure-free after lesionectomy of the frontal lobe by ASL combined with electroencephalography (EEG) rapid localization. The histopathological diagnosis was focal cortical dysplasia (FCD) type IIa and IIb.ConclusionsThe positive outcome suggests that the combined use of ASL with EEG could be a beneficial option for the presurgical evaluation of pediatric epilepsy.

CLINICAL CASE OF DENTINE DYSPLASIA TYPE I

Developmental dental hard tissues disorders are rarely diagnosed both in children and adults, and their treatment is a problem for dentist. Despite the fact that molecular genetics studies allow to discriminate some dentine disorders, pathogenesis of radicular dentin dysplasia is still obscure. Type I dentin dysplasia is characterized by normal or slightly coloured crowns with no roots or only rudimentary roots, reduced pulp space in permanent teeth and incomplete or total obliteration of the pulp chambers, and periapical radiolucent areas or cysts which might result in premature loss of tooth. Fortunately, teeth demonstrate higher resistance to caries than normal teeth do.&#x0D; Dentin dysplasia type II is characterized by yellow, brown, grey, translucent primary teeth with complete pulpal obliteration. Permanent teeth are normal or might be slightly coloured. Roots are normal in size, but pulp chamber has pulp stones. A third type of dentine dysplasia or focal odontoblastic dysplasia has radiographic aspects of the other two types of disease.&#x0D; Also dentine dysplasia type I has subtypes Ia, Ib, Ic and Id. Dentine dysplasia Ia is characterized by complete obliteration of the pulp, disorder of root development, and many periapical radiolucent areas. A single small horizontally oriented and half-moon shaped pulp is presented in case of dentine dysplasia Ib, roots have a few millimetres length and frequent periapical radiolucencies. Dentine dysplasia Ic is characterized by the presence of two horizontal or vertical semicircle-shaped pulpal remnants which surround dentine in pulp chamber. Also teeth have shortened roots and variable periapical radiolucencies. Dentine dysplasia Id is characterized by the distinct pulp chambers with pulp stones in the coronal third of the root canal; periapical radiolucencies are possible as well. Aim of this study was to analyse clinical case of dentine dysplasia in 8,5-year-old boy.&#x0D; A 8,5-year old boy patient with parents came to a dental office due to caries cavity in tooth 62. Shape of tooth crowns was not changed and teeth with no signs of mobility; white lines and spots on teeth are were detected. Based on age, the decision of orthopantomogram was made to evaluate status of primary and permanent teeth. The image showed almost obliterated pulp chamber in both erupted and developing teeth and considerably shortened, blunted and malformed roots without a visible lumen of root canals in primary teeth. Periapical lesions were found about roots of primary molars and follicles of teeth 12 and 14 without caries lesions.&#x0D; Patient's medical history revealed no disturbance in general health. Clinical examination of the patient's mother did not show dental hard tissues disorders, but radiograph examination revealed such disorder in the orthopantomogram. Thus, history, clinical and radiographic findings revealed this case as dentine dysplasia type I subtype 1c inherited from mother.&#x0D; Oral rehabilitation of patients with dentine dysplasia type I require effective prevention and a complex approach. Thus, meticulous oral hygiene measures and dietary instructions, regular check-ups twice a year were established for this patient; orthodontic consultation was recommended. Varnish «Ftoplen-LC» was applied on the permanent teeth 3 times. To prevent early exfoliation, plan of preventive measures was developed included application of fluoride varnish twice a year and fissure sealing in the premolars in 9-10 years and in the second premolars in 12-13 years.&#x0D; Treatment of dentine dysplasia I type that depends on patient age and severity of disease may include also filling of carious teeth, orthodontic, surgical and orthodontic treatment. In this regard, dentist has to know developmental dental hard tissues disorders and select measures to prolong the retention of affected teeth maintaining them as long as possible.

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, severe femoral shortening, and decreased lung volume. Individual lethal or life-limiting dysplasias may have more or less specific features on prenatal ultrasound. The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed.

Dataset for the reporting of carcinoma of the esophagus in resection specimens: recommendations from the International Collaboration on Cancer Reporting

A standardized data set for esophageal carcinoma pathology reporting was developed based on the approach of the International Collaboration on Cancer Reporting (ICCR) for the purpose of improving cancer patient outcomes and international benchmarking in cancer management. The ICCR convened a multidisciplinary international expert panel to identify the best evidence-based clinical and pathological parameters for inclusion in the data set for esophageal carcinoma. The data set incorporated the current edition of the World Health Organization Classification of Tumours of the Digestive System, and Tumour-Node-Metastasis staging systems. The scope of the data set encompassed resection specimens of the esophagus and esophagogastric junction with tumor epicenter ≤20mm into the proximal stomach. Core reporting elements included information on neoadjuvant therapy, operative procedure used, tumor focality, tumor site, tumor dimensions, distance of tumor to resection margins, histological tumor type, presence and type of dysplasia, tumor grade, extent of invasion in the esophagus, lymphovascular invasion, response to neoadjuvant therapy, status of resection margin, ancillary studies, lymph node status, distant metastases, and pathological staging. Additional non-core elements considered useful to report included clinical information, specimen dimensions, macroscopic appearance of tumor, and coexistent pathology. This is the first international peer-reviewed structured reporting data set for surgically resected specimens of the esophagus. The ICCR carcinoma of the esophagus data set is recommended for routine use globally and is a valuable tool to support standardized reporting, to benefit patient care by providing diagnostic and prognostic best-practice parameters.

Taylor's focal cortical dysplasia revisited: History, original specimens and impact.

50 years ago back in 1971, David C. Taylor and colleagues from England reported on a small series of surgical epilepsy cases proposing a new type of tissue lesion as a cause of difficult-to-treat focal epilepsy: a localized malformation of cerebral cortex. The lesion is now known as focal cortical dysplasia (FCD) Type II or Taylor's cortical dysplasia. FCD II is not rare, and today is a frequent finding in neurosurgical epilepsy specimens. Medical progress has been achieved in that the majority of FCD II is diagnosed non-invasively by magnetic resonance imaging today. Detailed studies on FCD revealed that the lesion belongs to a spectrum of mTOR-o-pathies, thereby confirming the authors´ initial hypothesis of a relationship to tuberous sclerosis. Here, selected original materials from Taylor´s series are presented as virtual slides, supplemented by original clinical records, in order to give a first-hand impression of this milestone finding in neuropathology of epilepsy.

STUDY OF PATTERNS OF DYSPLASIA IN INFLAMMATORY BOWEL DISEASES

Background: Inflammatory bowel disease (IBD) comprises of Ulcerative colitis, Crohn’s disease and colitis of indeterminate type. Patients with long established IBD are at a greater risk for development of colorectal carcinoma (CRC). The best marker for cancer risk in IBD is dysplasia. IBD on biopsy can show low grade dysplasia (LGD) or high grade dysplasia (HGD) or histological features indefinite for dysplasia. Aims: 1) Determination of the incidence of LGD, HGD and CRC in IBD patients. 2) Evaluation of presence of any correlation between duration of IBD and extent of intestinal involvement by IBD and between duration of IBD and multifocality of dysplasia. Materials and Method: 393 patients with clinical suspicion of IBD were enrolled in this study. During surveillance endoscopy number of biopsy samples taken from each case were 10-15. Histopathological examination of these biopsy samples was done. Results: Out of 266 patients of IBD who turned up for surveillance endoscopy, the incidences of LGD, HGD, CRC and IBD indeterminate for dysplasia were found to be 10.90%, 4.51%, 4.51% and 2.63% respectively. On statistical analysis it was discovered that in both UC and CD the extent of intestinal involvement was directly proportional to the duration of the disease. In both UC and CD, longer disease durations were linked to more foci of dysplasia. Conclusion: In both UC and CD, longer disease durations is linked to the extent of intestinal involvement and number of foci of dysplasia while type of dysplasia (LGD/HGD) is not related to duration of IBD. In IBD with UC incidence of PSC is linked with the extent of intestinal involvement.

Anal dysplasia as an incidental finding: the importance of specimen evaluation.

The incidence of anal squamous cell carcinoma (SCC) has increased dramatically in the USA. The squamous intraepithelial lesion has been identified as a precursor lesion to SCC, stratifying the abnormality into low grade or high grade. There have been studies on the prevalence of incidentally found SCC in haemorrhoidectomy specimens, but there are no studies to date on the incidence of dysplasia. The purpose of this study was to establish a baseline incidence of dysplasia that provides helpful information for future epidemiological studies. This is a retrospective review of patients who underwent haemorrhoidectomy from 2005 to 2019. Pathology regarding the type of dysplasia, medications, and diagnoses that may predispose to immunosuppression were collected. In all, 810 patients with a mean age of 51.7 (range 20-91) years underwent haemorrhoidectomy. Eighteen (2.2%) of the patients had abnormal pathology (low-grade squamous intraepithelial lesion, 3; high-grade squamous intraepithelial lesion,12; SCC, 2; adenocarcinoma, 1). Thirty-seven (4.5%) of the entire cohort had some risk factors for immunosuppression: chronic steroid use (nine), human immunodeficiency virus (HIV) (13), biologic medications (six), transplant recipients (two) and immunocompromising diseases (four). Only 4/18 patients had an immunosuppression risk in that all four of these patients were HIV-positive. Surveillance following excision was undertaken for an average of 6 (range 1-12) months, during which time four patients underwent a repeat biopsy. Anal dysplasia found in an otherwise asymptomatic population has a prevalence of 2.2%. This finding supports the routine examination of benign anorectal specimens undergoing microscopic examination. Interestingly, the majority of the patients identified had no immunosuppressant risk factors.

Differential Expression Hallmarks of Interneurons in Different Types of Focal Cortical Dysplasia.

Focal cortical dysplasia (FCD) is the main cause of medically intractable pediatric epilepsy. Previous studies have suggested that alteration of cortical interneurons and abnormal cytoarchitecture have been linked to initiation and development for seizure. However, whether each individual subpopulation of cortical interneurons is linked to distinct FCD subtypes remains largely unknown. Here, we retrospectively analyzed both control samples and epileptic specimens pathologically diagnosed with FCD types Ia, IIa, or IIb. We quantified three major interneuron (IN) subpopulations, including parvalbumin (PV)-, somatostatin (Sst)-, and vasoactive intestinal peptide (Vip)-positive INs across all the subgroups. Additionally, we calculated the ratio of the subpopulations of INs to the major INs (mINs) by defining the total number of the PV-, Sst-, and Vip-INs as mINs. Compared with the control, the density of the PV-INs in FCD type IIb was significantly lower, and the ratio of PV/mINs was lower in the superficial part of the cortex of the FCD type Ia and IIb groups. Interestingly, we found a significant increase in the ratio of Vip/mINs only in FCD type IIb. Overall, these results suggest that in addition to a reduction in PV-INs, the increase in Vip/mINs may be related to the initiation of epilepsy in FCD type IIb. Furthermore, the increase in Vip/mINs in FCD type IIb may, from the IN development perspective, indicate that FCD type IIb forms during earlier stages of pregnancy than FCD type Ia.