Cancer awareness and its related factors among junior high and high school teachers in Japan: a cross-sectional survey.

BACKGROUND: The early detection and prevention of many cancers is possible. Therefore, public awareness about cancer risk factors and warning signs must be increased to ensure early diagnosis. Although Japan has implemented mandatory cancer education in junior high and high schools, few studies have evaluated teachers' cancer awareness. This study aimed to determine Japanese junior high and high school teachers' awareness of cancer and related factors. METHODS: This cross-sectional study obtained data through an online questionnaire survey using questions from the Cancer Awareness Measure (CAM) developed by Cancer Research UK. Thirty items were selected from three CAM modules: cancer risk factors, cancer warning signs, and barriers to seeking help. Descriptive statistics were used for socio-demografic data and CAM module questions. The χ2 test was performed on the relationship between cancer awareness and socio-demographic data. Multiple logistic regression analysis was used to identify factors influencing cancer awareness. RESULTS: Respondents included 316 junior high school and 463 high school teachers (541 men; 238 women; average age = 48.2 years; average teaching experience = 23.5 years). An average of 5.41 out of 11 cancer risk factors were recognized. More than 70% of teachers recognized smoking, exposure to another person's cigarette smoke, and having a close relative with cancer as risk factors. On average, 4.52 out of 9 cancer warning signs were recognized. More than 50% of teachers recognized the warning signs of unexplained lump or swelling, unexplained weight loss, and unexplained bleeding. Barriers to seeking help had a low average score of 4.51 out of 20. However, the most commonly recognized "barriers to seeking help" were "too busy to make time," "difficult to make an appointment," "worried about what the doctor might find," and "too scared." Moreover, the common factors that affected awareness of cancer risk factors and cancer warning signs were gender and cancer experience of relatives. Factors that affected awareness of "barriers to seeking help" were "participation in cancer-related workshops," age, gender, and cancer experience of relatives. CONCLUSIONS: Cancer awareness education should consider interventions that can improve knowledge of the symptoms and signs related to cancer without increasing the awareness of barriers to seeking help.

Appropriate Endotracheal Tube Position for Percutaneous Dilatational Tracheostomy: A Single-Center Observational Study.

Aim This study aimed to investigate the appropriate endotracheal tube (ETT) position during percutaneous dilatational tracheostomy (PDT). Methods This single-center observational study included hospitalized patients who underwent surgical tracheostomy (ST) between August 2021 and October 2022. During ST, the trachea was opened, and the ETT was pulled out visually. It stopped when the ETT was no longer visible, and the tracheostomy tube was placed in the trachea. The ETT position was measured by considering the ETT position during ST to be the appropriate position during PDT. The correlation between the measured ETT position and patient characteristics was evaluated. A prediction equation for the ETT position was derived from the derivation group, and validation of the prediction equation was evaluated by the validation group. Results Forty-six and 15 patients were in the derivation and validation groups, respectively. Weight, duration of intubation, and in-hospital mortality were significantly different between the two groups. The measured ETT position correlated with body height (r=0.60, p<0.001) and sex (r=0.45, p=0.002), while the ETT position before ST showed a weak correlation (r=0.34, p=0.020). The predicted and measured values in the validation group correlated with each other (r=0.58, p=0.024). Conclusion The appropriate ETT position for PDT correlates with body height, and the equation "body height×0.112-0.323 cm" was derived. This predictive equation may be useful as a guide for ETT positioning during PDT puncture.

Role of Extracellular Vesicles in Absorption and Functional Mechanisms of Quercetin.

SCOPE: Quercetin (QUE), a phytochemical found in various plant foods, has been shown to have a variety of physiological activities in vivo, though biological sites where it has activities and the mechanisms of transport have not been fully elucidated. METHODS AND RESULTS: In the present study, intracellular uptake of QUE into HT-29 human colon adenocarcinoma cells is found to result in spontaneous release of extracellular vesicles (EVs), which are subsequently embedded with QUE. In addition, QUE-embedded EVs are detected in serum of QUE-administered Sprague-Dawley rats. Interestingly, the rate of cellular uptake of QUE-encapsulated EVs (EV-QUE) into RAW264.7 macrophages is markedly higher than that of free QUE. Moreover, EV-QUE suppresses lipopolysaccharide (LPS)-induced nitric oxide at a lower concentration than free QUE. CONCLUSION: The present findings suggest that QUE may be embedded in EVs in the gastrointestinal tract, then become absorbed and enter the bloodstream to exhibit biological activities.

Details of Cancer Education Programs for Adolescents and Young Adults and Their Effectiveness: A Scoping Review.

The purpose of this review was to establish what cancer education programs have been carried out aimed at adolescents and young adults (AYAs) and what outcomes they achieved. The databases used were MEDLINE, CINAHL, and Web of Science, and the search period was set as 2011-2020. The extracted literature was evaluated for quality using the Joanna Briggs Institute's critical appraisal tools. The subjects of the analysis were 29 studies: 10 randomized controlled trials and 19 quasi-experimental designs. Regarding the varieties of cancers found in the data, in descending order, 10 documents looked at cervical cancer, 9 looked at cancer in general, and 4 looked at breast cancer. Most studies focused on AYAs exclusively, with just three studies involving their parents simultaneously. Many studies used lecture-based intervention, with information technology-based interventions using websites and cell phones. Topics included in the program were cancer epidemiology, cancer risk factors, cancer warning signs and symptoms, prevention methods, and screening methods. After the intervention, all studies showed statistically significant improvements in at least one outcome measure, which included knowledge and awareness of cancer, health beliefs, and intent to take preventive action, demonstrating a basis for educational intervention. Educating AYAs about cancer at a time when their ways of life are becoming more concrete can be expected to have a positive impact on cancer preventing behaviors in adulthood, increase their parents' awareness of cancer, and have a positive impact on behavior around screening.

Hemostatic Achievement After Introduction of Venovenous Extracorporeal Membrane Oxygenation for Severe Multiple Trauma: A Case Study.

Venovenous extracorporeal membrane oxygenation (VV-ECMO) is indicated for patients with severe respiratory failure who cannot be managed with a ventilator. We report a case of severe chest trauma with an injury severity score of 66, in which hemostasis was achieved after VV-ECMO. A 29-year-old male patient sustained a fall injury from a 4-m cliff. The fall resulted in significant traumatic cerebral hemorrhage, bilateral pulmonary contusion, hemothorax, pelvic fracture, and limb fracture. During transcatheter arterial embolization, the patient continued to bleed from the left lung and showed progressive hypoxemia. In addition, the patient was unable to maintain tidal volume and experienced hypercapnia, and thus, VV-ECMO was introduced, followed by a thoracotomy to stop the bleeding. On the third day of hospitalization, the patient was weaned off VV-ECMO, and on day 35, he was transferred to a rehabilitation hospital for recovery. VV-ECMO may serve as a "bridge" until hemostatic maneuvers for severe chest trauma are completed and may contribute to help ensure adequate respiration.

Validating the trauma care system developed by Yokohama City local government.

Background: Since becoming the city with the first government-designated major trauma center in 2014, Yokohama has been striving to centralize care for extensive trauma patients. Hence, in this study, the Yokohama City Major Trauma Care Advisory Committee tested the efficacy of the centralization of care for trauma patients. Methods: This investigation included all cases of deaths due to road traffic accidents that occurred in the 2-year period following the establishment of the major trauma center. The probability of survival was calculated using data provided by the police and fire departments. Cases that died despite having a probability of survival of 50% or more were included in the survey undertaken by physicians recommended by the Japanese Association for the Surgery of Trauma, who visited the hospitals. Results: Of those surveyed, preventable trauma death accounted for 1 case (1.7%) and potentially preventable trauma death accounted for 7 (11.9%), compared with 5 (9.8%) and 11 (21%) cases, respectively, in the period 2009-2010. Conclusions: Comparing the survey conducted before establishment of the major trauma center, those results support the benefits of centralizing care for severe trauma cases. We aim to continue improving trauma care provided through the center along with the Yokohama Medical Control Council and to overcome challenges that were identified through the peer review.

Temporal changes in peripheral regional oxygen saturation associated with return of spontaneous circulation after out-of-hospital cardiac arrest: A prospective observational cohort study in Japan.

AIM: Temporal changes in cerebral regional oxygen saturation (crSO2) are useful for predicting return of spontaneous circulation (ROSC) in out-of-hospital cardiac arrest (OHCA) patients. However, little is known regarding the usefulness of peripheral regional oxygen saturation (prSO2) associated with OHCA patient outcomes. This study evaluated the association between temporal changes in prSO2 and ROSC in patients with OHCA. METHODS: This was a prospective study at two tertiary emergency centres in Japan. We evaluated the relationship between ROSC and temporal changes in crSO2 and prSO2. The rSO2 sensor was attached to the patient's forehead and upper arm, and rSO2 was continuously measured until resuscitative efforts were terminated or until the patient with sustained ROSC (>20 min) arrived at the emergency department. RESULTS: We included 145 patients with OHCA, of whom 35 achieved ROSC. Witness status (odds ratio [95% confidence interval]: 11.6 [3.13-58.1]) and ΔprSO2 (1.13 [1.06-1.24]) were significantly associated with ROSC in multiple logistic analysis. In the ROSC group, ΔprSO2 increased earlier than ΔcrSO2 during cardiopulmonary resuscitation. In the non-ROSC group, there was no significant difference between ΔcrSO2 and ΔprSO2, and neither increased before termination of resuscitation (TOR). CONCLUSION: We demonstrated for the first time that prSO2 is associated with ROSC in OHCA patients and showed that temporal changes in prSO2 could predict ROSC earlier than those in crSO2. Our findings could provide time to prepare early interventions after ROSC and assist in determining the TOR for OHCA patients in Japan. Further studies are needed to validate these findings.

A simulation study of high-flow versus normal-flow three-way stopcock for rapid fluid administration in emergency situations: A randomised crossover design.

BACKGROUND: Initial fluid resuscitation is presumed to be important for treating shock in the resuscitation phase. However, little is known how quickly and easily a physician could perform a rapid infusion with a syringe. OBJECTIVES: We hypothesised that using a high-flow three-way stopcock (HTS) makes initial fluid resuscitation faster and easier than using a normal-flow three-way stopcock (NTS). METHODS: This was a simulation study with a prospective, nonblinded randomised crossover design. Twenty physicians were randomly assigned into two groups. Each participant used six peripheral intravenous infusion circuits, three with the HTS and the others with the NTS, and three cannulae, 22, 20, and 18 gauge (G). The first group started with the HTS first, while the other started with the NTS first. They were asked to inject the fluid as quick as possible. We compared the time until the participants finished rapid infusions of 500 ml of 0.9% saline and the practitioner's effort. RESULTS: In infusion circuits attached with the 22G cannula, the mean difference using the HTS and the NTS (95% confidence interval [CI]) was 16.30 ml/min (7.65-24.94) (p < 0.01). In those attached with the 20G cannula, the mean difference (95% CI) was 23.47 (12.43-34.51) (p < 0.01). In those attached with the 18G cannula, the mean difference (95% CI) was 42.53 (28.68-56.38) (p < 0.01). CONCLUSIONS: This study revealed that the push-and-pull technique using the HTS was faster, easier, and less tiresome than using the NTS, with a statistically significant difference. In the resuscitation phase, initial and faster infusion is important. If only a single physician or other staff member such as a nurse is attending or does not have accessibility to any other devices in such an environment where medical resources are scarce, performing the push-and-pull technique using the HTS could help a physician to perform fluid resuscitation faster. By setting up the HTS instead of the NTS from the beginning, we would be able to begin fluid resuscitation immediately while preparing other devices.

Use of near-infrared imaging using indocyanine green associates with the lower incidence of postoperative complications for intestinal and mesenteric injury.

Anastomotic leakage after intestinal resection is one of the most serious complications of surgical intervention for hollow viscus injury. Adequate vascular perfusion of the anastomotic site is essential to prevent anastomotic leakage. Near-infrared imaging using indocyanine green (NIR-ICG) is useful for the objective assessment of vascular perfusion. The aim of this study was to evaluate the association of NIR-ICG with intestinal and mesenteric injuries. This was a retrospective, single-center study of patients undergoing surgery for intestinal and mesenteric injuries. NIR-ICG was used to evaluate vascular perfusion. Postoperative complications were assessed between NIR-ICG and non-NIR-ICG groups.The use of NIR-ICG was associated with a lower incidence of Clavien-Dindo grade ≥ III complications with a statistical tendency (p = 0.076). When limited to patients that underwent intestinal resection, the use of NIR-ICG was significantly associated with a lower risk of perioperative complications (p = 0.009). The use of NIR-ICG tended to associate with the lower incidence of postoperative complications after intestinal and mesenteric trauma surgery. NIR-ICG was associated with a significantly lower risk of complications in patients undergoing intestinal resection. The NIR-ICG procedure is simple and quick and is expected to be useful for intestinal and mesenteric trauma.

Neutrophil gelatinase-associated lipocalin as a biomarker for short-term outcomes among trauma patients: A single-center observational study.

BACKGROUND: Urinary biomarkers for organ dysfunction could predict the outcomes of severe trauma patients. However, the use of neutrophil gelatinase-associated lipocalin (NGAL) as a biomarker of trauma is not well studied. OBJECTIVES: To evaluate the association between the short-term prognosis of trauma patients and NGAL levels. METHODS: We conducted a single center study and compared predictive performances between NGAL levels and the trauma severity. RESULTS: A total of 104 patients were included in the study. Patients were divided into two groups based on ISS score of 16. There was no significant difference in patient characteristics based on trauma severity. However, the lactate level was significantly higher in the more severe group. There was a significant association between urinary NGAL levels and trauma severity indicators, such as intensive care unit stay (ICU) (p = 0.005) and emergency care unit (ECU) stay (p = 0.049). In addition, receiver operating curve analysis showed that as a predictor, NGAL could be used for detecting severity with moderate precision, especially for short-term outcomes (specificity 70.6 for ICU and 69.0 for ECU stay). CONCLUSION: In this study, we revealed that the level of NGAL could predict the degree of invasiveness in trauma patients with moderate precision and estimate the duration of treatment during the acute phase. It is necessary to examine the validity of the findings of this study using a prospective, cohort, and multi-center collaborative study design.

Trauma severity associated with stress index in emergency settings: an observational prediction-and-validation study.

AIM: Early judgments for treating severe trauma patients are essential for life-saving. Stress index (SI), obtained from a division of blood glucose level by serum potassium at arrival, might be useful for early prediction. However, the efficacy of SI was unknown. The purpose of this study was to identify and validate prediction models of severe trauma (ST) and the need for damage control operation (DCOP) and massive transfusion (MT) by using SI among trauma patients. METHODS: This study was a retrospective and prospective observational study. The prediction models were created by 1-year retrospective data of 167 trauma patients. The prediction models were validated by 6 months of prospective data of 87 trauma patients. RESULTS: The prediction model for ST contained respiratory rate and SI as significant factors. The prediction model for DCOP contained SI. The prediction model for MT contained systolic blood pressure and SI. The correlation of probability of MT, ST, and DCOP was r = 0.70 (P < 0.001), r = 0.46 (P < 0.001), and r = 0.15 (P = 0.196), respectively. The predicted probability of MT, ST, and DCOP showed 0.93 (95% confidence interval [CI], 0.88-0.90) and 0.80 (95% CI, 0.74-0.86), and 0.79 (95% CI, 0.70-0.88). CONCLUSION: We identified and validated our prediction models for ST and the need for DCOP and MT among trauma patients using SI as a main predictor. Our models indicated that fewer variables in an early phase of the treatment process can inform clinicians regarding how severe a patient is and which intervention is needed.

Does the conventional landmark help to place the tip of REBOA catheter in the optimal position? A non-controlled comparison study.

Background: Resuscitative endovascular balloon occlusion of the aorta (REBOA) for patients with traumatic torso hemorrhagic shock is available to keep a minimum level of circulatory status as a bridge to definitive therapy. However, the trajectory for placement of REBOA in the aorta has not yet been clearly defined. Methods: We conducted a retrospective observational cohort study in the two tertiary critical care and emergency center from December 2014 to October 2018. A total of 28 patients who underwent focused assessment with sonography for trauma (FAST) were studied via contrast computed tomography (CT), and 27 were analyzed. Results: We divided patients into two groups based on our CT findings. The REBOA deflate group included 16 patients, and the inflate group included 11 patients. The median trace value (interquartile range) of the blood vessel center line from the common femoral artery to the tip of REBOA (blood vessel length) and the length of REBOA itself from the common femoral artery to the tip of REBOA (REBOA insertion length) were 56.2 cm (54.5-57.2) and 55.2 cm (54.2-55.6), respectively (p < 0.0001) for the deflated group, and 51.4 cm (42.1-56.6) and 50.3 cm (42.3-55.0) (p = 0.594), respectively, for the inflated group. Conclusions: If REBOA was deflated, it was placed 1.0 cm longer than the insertion length of REBOA catheter itself, but that was not the case when inflating REBOA. The individual difference was large to the extent that the balloon inflated and the extent to which the balloon was pushed back toward the caudal depending on the degree of blood pressure. Further studies would be needed to validate the study findings.

Two cases with intra-aortic balloon pumping use for severe septic cardiomyopathy.

Cases: Septic cardiomyopathy is defined as a reversible left ventricular systolic dysfunction. Patients with severe septic cardiomyopathy have a high mortality rate, even if they receive conventional therapy. For those patients, previous reports showed intra-aortic balloon pump (IABP) efficacy. We report two rare cases with IABP introduction leading them to drastic improvement, and survival from severe septic cardiomyopathy. Case 1 is a 78-year-old woman diagnosed with renal calculus pyelonephritis, septic shock, and septic cardiomyopathy. Case 2 is a 62-year-old man diagnosed with pneumonia, septic shock, and septic cardiomyopathy. Outcome: In both cases, despite conventional therapy for cardiomyopathy, including high-dose catecholamine therapy, shock was not reversed, and the IABP was inserted. Circulatory status was improved after the introduction of the IABP. Conclusion: Our findings suggest that an IABP can be useful for salvaging patients with septic cardiomyopathy who do not respond to conventional therapy.

Percutaneous Transtracheal Jet Ventilation with Various Upper Airway Obstruction.

A "cannot-ventilate, cannot-intubate" situation is critical. In difficult airway management, transtracheal jet ventilation (TTJV) has been recommended as an invasive procedure, but specialized equipment is required. However, the influence of upper airway resistance (UAR) during TTJV has not been clarified. The aim of this study was to compare TTJV using a manual jet ventilator (MJV) and the oxygen flush device of the anesthetic machine (AM). We made a model lung offering variable UAR by adjustment of tracheal tube size that can ventilate through a 14-G cannula. We measured side flow due to the Venturi effect during TTJV, inspired tidal volume (TVi), and expiratory time under various inspiratory times. No Venturi effect was detected during TTJV with either device. With the MJV, TVi tended to increase in proportion to UAR. With AM, significant variations in TVi was not detected with changes in any UAR. In conclusion, UAR influenced forward flow of TTJV in the model lung. The influence of choked flow from the Venturi effect was minimal under all UAR settings with the MJV, but the AM could not deliver sufficient flow.

A pilot study of quantitative capillary refill time to identify high blood lactate levels in critically ill patients.

INTRODUCTION: We developed a new device to quantify capillary refill time (CRT) by applying the pulse oximeter principle, and evaluated the correlation between quantitative CRT (Q-CRT) and hypoperfusion status, as represented by blood lactate levels, in critically ill patients. METHODS: A pilot study was undertaken in the intensive care unit (ICU) in a tertiary emergency medical centre. While the pulse oxygen saturation sensor was placed on the finger of the patients, transmitted light intensity (TLI) was measured with a pulse oximeter (OLV-3100; Nihon Kohden, Tokyo, Japan) before and during compression of the finger. Q-CRT was defined as the interval from the release of compression to the time when TLI reached 90% of baseline. RESULTS: Q-CRT was analysed in a total of 57 waveforms among 23 patients and statistically correlated with lactate levels (Spearman's rank correlation coefficient, 0.681; p<0.001). The cut-off value of Q-CRT for predicting a lactate level of ≥2.0 mmol/L was 6.81 s (area under the curve (AUC) (95% CI 1.000 (1.000 to 1.000), p<0.001), and the value for predicting a lactate level of ≥4.0 mmol/L was 7.27 s (AUC=0.989 (95% CI 0.954 to 1.000), p<0.001). CONCLUSIONS: Q-CRT correlated with blood lactate levels in this pilot study. The most useful threshold for Q-CRT was ∼6-8 s. Further study is needed to investigate the potential role of this modality as a non-invasive predictor of hypoperfusion in the emergency department, ICU and operating room settings.

[Percutaneous cardiopulmonary support (PCPS)].

The percutaneous cardiopulmonary support (PCPS) allows maintaining the patient's cardiac and pulmonary status with low cardiac or pulmonary performance due to acute myocardial infarction, pulmonary thromboembolism, postoperative phase of great blood vessels/open heart surgery or percutaneous coronary intervention, and so on. This system consists of a centrifugal pump with its control system, membrane oxygenator, measure devices for blood flow and pressure and a heating system for temperature conditioning of blood. The potential effectiveness is suggested using PCPS for cardiopulmonary resuscitation(CPR), so called extracorporeal cardiopulmonary resuscitation(ECPR). The single center studies suggesting the utility of ECPR appear, but ECPR is contents to have possibilities to improve prognosis in limited adaptation because there is not yet enough evidence in CoSTR 2010 by ILCOR. However, multicenter study about the utility of ECPR used PCPS for the out-of-hospital cardiac arrest(Study of Advanced life support for Ventricular fibrillation with Extracorporeal circulation in Japan: SAVE-J) is started in April 2007, and it is said that ECPR may improve neurological outcome comparing with that of the conventional CPR by the interim report. Further studies will determine its efficacy and adequate criteria.

[Case of hyperkalemia possibly caused by gabexate mesilate].

We report a case of hyperkalemia in a recipient of living-related liver transplantation. The patient received a continuous infusion of gabexate mesilate at 60 mg x hr(-1) starting about 1 hr after the induction of anesthesia. The serum potassium concentration (K+) was increased from 4.53 mEq x l-(1) to 5.08 mEq x l(-1) within about 1 hr. Thereafter, a massive blood loss caused by an accidental damage of the portal vein necessitated rapid fluid therapy to maintain blood pressure. We observed an abnormal ECG recording including a wide QRS complex and a high T wave when about 30 units of leukocytes-reduced red cell concentrates had been transfused. Blood gas analysis showed high K+ (7.52 mEq x l(-1)) and metabolic acidosis (pH 7.167, base excess-12.5 mmol x l(-1)). We successfully controlled K+ with combination of therapies before causing any cardiac events to the patient. Gabexate mesilate is one possible cause of hyperkalemia in the present case because an increase in K+ was observed before transfusion, and transfusion might have augmented the effect. Gabexate mesilate is one of the protease inhibitors. Naphamostat mesilate, another protease inhibitor, is known to cause hyperkalemia by limiting potassium excretion from the kidney through an inhibition of Na/K-ATPase at the cortical collecting ducts. Although the mechanism by which gabexate mesilate causes hyperkalemia is unclear, it would be of benefit to use this drug cautiously, as it may cause hyperkalemia.

Dramatic improvement in Down syndrome-associated cognitive impairment with donepezil.

OBJECTIVE: To report 2 cases of patients with Down syndrome and severe cognitive impairment who gained dramatic improvements in quality of life (QOL) upon donepezil treatment. CASE SUMMARIES: Case 1. A 38-year-old woman with Down syndrome, diagnosed with secondary progressive dementia when her mental state had deteriorated rapidly after graduation from junior high school, started donepezil treatment. The loading dose was 3 mg/day and was increased to 5 mg/day for maintenance. One month after the dose was increased, adverse effects such as soft stool and urinary incontinence appeared. These adverse effects disappeared when the dose was decreased again to 3 mg/day. Her QOL improved dramatically with this minimal dose. She recovered verbal and written communication skills that she had lost for the past 21 years. Case 2. A 22-year-old man with Down syndrome, who had been diagnosed as having severe mental retardation, was put on donepezil therapy. Both loading and maintenance doses were 3 mg/day. His QOL had also dramatically improved, with some recovery in verbal communication. Transient agitation/violence and transient muscle weakness appeared during the first few months of treatment. DISCUSSION: Patients with Down syndrome may be more sensitive to donepezil therapy than others and may benefit from this medicine, although they may also have adverse effects more frequently. CONCLUSIONS: Donepezil may be a useful medicine for some patients with Down syndrome with severe cognitive impairment or mental retardation if the adverse effects are manageable.

Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.

To clarify the genotype-phenotype correlation of 5p- syndrome, FISH analyses were performed for six patients by using a series of probes spanning 5p13.1-p15.33. Genotypically, break points of deletion were quite different. Three of the six patients were diagnosed as interstitial deletion on chromosome 5p by G-banding method and FISH analysis; however, all of them proved to be entire distal deletions of 5p caused by unbalanced chromosomal translocations. Furthermore, one 5p- syndrome patient was diagnosed only by the FISH analysis using a single probe but not by ordinary chromosomal analyses. Therefore, when ordinary chromosomal analysis cannot detect any deletion in a patient who is phenotypically suspected of 5p- syndrome, multiple FISH analysis or parental chromosomal analysis would be needed for correct diagnosis. Interestingly, one patient with terminal deletion between 5p15.31-pter lacks mental retardation and cat-like crying, indicating that this region might not be responsible for those cardinal features of 5p- syndrome. Further studies on genotype-phenotype correlation will help us better understand 5p- syndrome and also determine functional mapping of the 5p region.

Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.

We report on a 3-year-old boy with circumferential skin creases as seen in Michelin tire baby syndrome (MTBS), hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed degenerative collagen, which has never been found in MTBS. Similar clinical manifestations shared by our patient and a boy reported previously suggest a new clinical entity, in which degenerative collagen is etiologically involved. We propose an acronym to designate it: hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome.