Clinical Diagnosis of Placenta Accreta and Clinicopathological Outcomes

Objective To investigate the association between the intraoperative diagnosis of placenta accreta at the time of cesarean hysterectomy and pathological diagnosis. Study Design This is a retrospective cohort study of all patients undergoing cesarean hysterectomy for suspected placenta accreta from 2000 to 2016 at Barnes-Jewish Hospital. The primary outcome was the presence of invasive placentation on the pathology report. We estimated predictive characteristics of clinical diagnosis of placenta accreta using pathological diagnosis as the correct diagnosis. Results There were 50 cesarean hysterectomies performed for suspected abnormal placentation from 2000 to 2016. Of these, 34 (68%) had a diagnosis of accreta preoperatively and 16 (32%) were diagnosed intraoperatively at the time of cesarean delivery. Two patients had no pathological evidence of invasion, corresponding to a false-positive rate of 4% (95% confidence interval [CI]: 0.5%, 13.8%) and a positive predictive value of 96% (95% CI: 86.3%, 99.5%). There were no differences in complications among patients diagnosed intraoperatively compared with those diagnosed preoperatively. Conclusion Most patients undergoing cesarean hysterectomy for placenta accreta do have this diagnosis confirmed on pathology. However, since the diagnosis of placenta accreta was made intraoperatively in nearly a third of cesarean hysterectomies, intraoperative vigilance is required as the need for cesarean hysterectomy may not be anticipated preoperatively

Clinical Diagnosis

A 12-year-old male presents for vision examina­tion, along with teachers and classmates from the local school for deaf children. An initiative to ensure that the students receive regular vision care was undertaken by the school, in response to concerns about undetected and untreated vision problems in this at-risk population. The child's teachers have observed that his left eye turns out, and that he displays difficulty with glare. He himself reports that vision in the left eye is poor, and that people must stand on his right side in order for him to communicate with them by sign lan­guage. His kindergarten teacher remembers that he was supposed to wear a contact lens in one eye, however this was seldom done. The child reports that he has glasses at home, but that he never wears them

Clinical Diagnosis

Congenital Hypertrophy of the Retinal Pigment Epitheliu

Molecular testing for the clinical diagnosis of fibrolamellar carcinoma.

Fibrolamellar carcinoma has a distinctive morphology and immunophenotype, including cytokeratin 7 and CD68 co-expression. Despite the distinct findings, accurate diagnosis of fibrolamellar carcinoma continues to be a challenge. Recently, fibrolamellar carcinomas were found to harbor a characteristic somatic gene fusion, DNAJB1-PRKACA. A break-apart fluorescence in situ hybridization (FISH) assay was designed to detect this fusion event and to examine its diagnostic performance in a large, multicenter, multinational study. Cases initially classified as fibrolamellar carcinoma based on histological features were reviewed from 124 patients. Upon central review, 104 of the 124 cases were classified histologically as typical of fibrolamellar carcinoma, 12 cases as 'possible fibrolamellar carcinoma' and 8 cases as 'unlikely to be fibrolamellar carcinoma'. PRKACA FISH was positive for rearrangement in 102 of 103 (99%) typical fibrolamellar carcinomas, 9 of 12 'possible fibrolamellar carcinomas' and 0 of 8 cases 'unlikely to be fibrolamellar carcinomas'. Within the morphologically typical group of fibrolamellar carcinomas, two tumors with unusual FISH patterns were also identified. Both cases had the fusion gene DNAJB1-PRKACA, but one also had amplification of the fusion gene and one had heterozygous deletion of the normal PRKACA locus. In addition, 88 conventional hepatocellular carcinomas were evaluated with PRKACA FISH and all were negative. These findings demonstrate that FISH for the PRKACA rearrangement is a clinically useful tool to confirm the diagnosis of fibrolamellar carcinoma, with high sensitivity and specificity. A diagnosis of fibrolamellar carcinoma is more accurate when based on morphology plus confirmatory testing than when based on morphology alone

Prospective evaluation of BDProbeTec strand displacement amplification (SDA) system for diagnosis of tuberculosis in non-respiratory and respiratory samples.

Nucleic acid amplification techniques (NAATs) have been demonstrated to make significant improvements in the diagnosis of tuberculosis (TB), particularly in the time to diagnosis and the diagnosis of smear-negative TB. The BD ProbeTec strand displacement amplification (SDA) system for the diagnosis of pulmonary and non-pulmonary tuberculosis was evaluated. A total of 689 samples were analysed from patients with clinically suspected TB. Compared with culture, the sensitivity and specificity for pulmonary samples were 98 and 89 %, and against final clinical diagnosis 93 and 92 %, respectively. This assay has undergone limited evaluation for non-respiratory samples and so 331 non-respiratory samples were tested, identifying those specimens that were likely to yield a useful result. These were CSF (n = 104), fine needle aspirates (n = 64) and pus (n = 41). Pleural fluid (n = 47) was identified as a poor specimen. A concern in using the SDA assay was that low-positive samples were difficult to interpret; 7.8 % of specimens fell into this category. Indeed, 64 % of the discrepant results, when compared to final clinical diagnosis, could be assigned as low-positive samples. Specimen type did not predict likelihood of a sample being in the low-positive zone. Although the manufacturers do not describe the concept of a low-positive zone, we have found that it aids clinical diagnosis

臨床所見および検査成績からのスコアーによる喘息分類の特徴

Twenty six patients with bronchial asthma was classified by clinical symptoms and singns (clinical diagnosis), and the classification by clinical diagnosis was compared with the classification by a score calculated from clinical findings and examinations (score diagnosis). 1. Of 12 subjects with type Ia classified by clinical diagnosis, 8 cases with 0 to 49 ml/day of expectoration were evaluated as type Ia by score diagnosis. While four type Ia cases with 50 to 99ml/day of expectoration were calssified as type Ib by score diagnosis. The increased incidence of eosinophils in bronchoalveolar lavage fluid (BALF) of these four cases was similar to the incidence in type Ib cases with hypersecretion. 2. All of 6 subjects with type Ib by clinical diagnosis were estimated as type Ib by score diagnosis. 3. Of 8 cases with type II by clinical diagnosis, 7 cases were assessed as type II by score diagnosis. One case with type II by clinical diagnosis and with the score of 10 points was evaluated as questionable type II by score diagnosis.気管支喘息36例を対象に,臨床病態による喘息の分類（臨床診断）を試み,この分類と臨床所見および臨床検査より求めたスコアーによる分類（スコアー分類）との比較検討を行った｡1.臨床分類でIa.単純性気管支攣縮型と診断された12症例のうち,1日喀痰量0-49mlの8症例は,スコアー分類では同様にIa.型と分類された｡一方,1日喀痰量50-99mlの4症例はスコアー分類ではIb.型（気管支攣縮+過分泌型）と分類された｡これら4症例のBALF中好酸球増多はIb.型に類似した病態であった｡2.臨床診断によりIb.型に分類された6症例はいずれもスコアー診断でもIb.型と分類された｡3.臨床診断によりII.型（細気管支閉塞型）と分類された8症例のうち,7症例はスコアー診断でもII.型と分類されたが,1症例はスコアー10でII.型の診断基準に合わず,questionable II.型と診断された

The molecular genetic analysis of the expanding pachyonychia congenita case collection

BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17. OBJECTIVES: To identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research Registry during the last few years. METHODS: Genomic DNA isolated from saliva or peripheral blood leucocytes was amplified using primers specific for the PC-associated keratin genes and polymerase chain reaction products were directly sequenced. RESULTS: Mutations were identified in 84 families in the PC-associated keratin genes, comprising 46 distinct keratin mutations. Fourteen were previously unreported mutations, bringing the total number of different keratin mutations associated with PC to 105. CONCLUSIONS: By identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, this study has confirmed, at the molecular level, the clinical diagnosis of PC in these families