Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.

Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.

Determining the Treatment Strategy for Refractory Ulcerative Colitis Using Prostaglandin E-major Urinary Metabolite (PGE-MUM) Measurement.

Prostaglandin E-major urinary metabolite (PGE-MUM) is a valuable biomarker reflecting the cytokine profile. We encountered a case of a 14-year-old boy with pan-colitis-type ulcerative colitis who was unresponsive to steroids and infliximab. The patient's clinical symptoms gradually deteriorated and surgical treatment was strongly considered because anti-inflammatory therapy was unlikely to be effective. PGE-MUM levels were markedly elevated, indicating a T-helper 17 (Th17)-like cytokine profile. Because an antibody against interleukin 23 (IL-23) was presumed to be effective, the patient was treated with mirikizumab, after which he achieved remission. In the present case, measurement of PGE-MUM levels was useful in selecting anti-cytokine treatments for severe ulcerative colitis.

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.

Pulmonary Arterial Hypertension in Neurofibromatosis Type 1: A Case with a Novel NF1 Gene Mutation.

Neurofibromatosis type 1 (NF1) is an autosomal dominant multi-organ disease. The clinical manifestations include not only skin lesions and malignant tumors but also lung complications, including pulmonary arterial hypertension (PAH). However, the association between gene mutations in NF1 and the occurrence of PAH has not yet been elucidated. We herein report a case of isolated PAH in a 67-year-old woman with NF1, presumably caused by a novel heterozygous mutation, c.4485_4486delinsAT (p.Lys1496Ter), in the NF1 gene.

Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.

BACKGROUND: Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the complete sequencing of FGF14 repeat expansion to elucidate its repeat motifs and pathogenicity. METHODS: We screened FGF14 repeat expansion in a Japanese cohort of 460 molecularly undiagnosed adult-onset cerebellar ataxia patients and 1022 controls, together with 92 non-Japanese controls, and performed nanopore sequencing of FGF14 repeat expansion. RESULTS: In the Japanese population, the GCA motif was predominantly observed as the non-GAA motif, whereas the GGA motif was frequently detected in non-Japanese controls. The 5'-common flanking variant was observed in all Japanese GAA repeat alleles within normal length, demonstrating its meiotic stability against repeat expansion. In both patients and controls, pure GAA repeat was up to 400 units in length, whereas non-pathogenic GAA-GCA repeat was larger, up to 900 units, but they evolved from different haplotypes, as rs534066520, located just upstream of the repeat sequence, completely discriminated them. Both (GAA)≥250 and (GAA)≥200 were enriched in patients, whereas (GAA-GCA)≥200 was similarly observed in patients and controls, suggesting the pathogenic threshold of (GAA)≥200 for cerebellar ataxia. We identified 14 patients with SCA27B (3.0%), but their single-nucleotide polymorphism genotype indicated different founder alleles between Japanese and Caucasians. The low prevalence of SCA27B in Japanese may be due to the lower allele frequency of (GAA)≥250 in the Japanese population than in Caucasians (0.15% vs 0.32%-1.26%). CONCLUSIONS: FGF14 repeat expansion has unique features of pathogenicity and allelic origin, as revealed by a single ethnic study.

Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.

Objective: Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) has received attention due to its potential response to coenzyme Q10 (CoQ10) supplementation; however, the response has so far been limited and variable. Methods: We report a SCAR9 patient with severe hypophosphatemia who responded well to CoQ10 and phosphate repletion. Results: A 70-year-old man (the offspring of a consanguineous marriage) presented with cerebellar ataxia and intense fatigue after exercise. Whole-exome sequencing identified a novel homozygous deletion mutation (NM_020247.5:c.1218_1219del) in COQ8A. We thus diagnosed him with SCAR9. Supplementation of CoQ10 alleviated his symptoms, with the Scale for the Assessment and Rating of Ataxia (SARA) dropping from 16 to 14. During the course of the disease, he demonstrated continuous hypophosphatemia caused by renal phosphate wasting. Gait dysfunction due to weakness and eye movement was partially alleviated, and SARA dropped from 17 to 13 after phosphate repletion. Discussion: Phosphate repletion should be considered for patients with severe hypophosphatemia without any apparent subjective symptoms. In this case, phosphate repletion could have improved myopathy leading to partial improvement in the patient's symptoms. Further analyses regarding the association between COQ8A mutation and phosphate wasting are required to elucidate the detailed pathogenesis. Classification of Evidence: This provides Class IV evidence. This is a single observational study without controls.

Triamcinolone acetonide with arthroscopic capsular release for frozen shoulder promotes early recovery of shoulder abduction.

Background: Current treatment options for frozen shoulder are not established as the standard-of-care. The condition may resolve without intervention, but symptoms may persist despite treatment. Frozen shoulder is associated with inflammatory reactions that can reduce quality of life. Our aim was to determine whether triamcinolone acetonide, an immunosuppressive steroid, improved functional recovery when administered after arthroscopic capsular release (ACR) for frozen shoulder. Methods: We selected participants using inclusion and exclusion criteria designed to reduce the impact of potential confounding factors. Under general anesthesia, we performed ACR followed by manipulation to ensure adequate range of motion (ROM) and wound closure. In the steroid treatment group, we injected triamcinolone acetonide into the glenohumeral joint immediately prior to wound closure. The follow-up period was six months. To determine the efficacy of steroids in improving overall post procedure functional recovery we statistically analyzed data from various qualitative and quantitative variables. Results: Our study consisted of 22 patients with frozen shoulder, 11 in each of the surgery-only and surgery with steroid injection groups. There were no significant differences between groups in the demographic data of the study participants. We observed significantly greater improvements in abduction ROM in the steroid treatment group than in the surgery-only group, at three and six months post treatment. Improvements in other movement parameters were similar in both groups. The steroid-treated group had a significantly higher numerical rating scale score for night pain at three months post treatment than the surgery-only group. Conclusions: Postoperative steroid treatment led to early recovery of the abduction ROM in patients with frozen shoulder. Hence, the current standard-of-care protocol for frozen shoulder and other similar conditions requiring surgical intervention should include this type of treatment. Therapeutic reduction in the inflammatory response following ACR can significantly improve prognosis and quality of life.

Radial nerve palsy caused by a rapidly growing intramuscular hematoma in an infant with biliary atresia: a case report.

BACKGROUND: Biliary atresia (BA) is a rare cause of persistent jaundice in infants that can result in vitamin K malabsorption and vitamin K deficiency bleeding (VKDB). We present an infant with BA who developed a rapidly growing intramuscular hematoma in her upper arm after a vaccination which caused a radial nerve palsy. CASE PRESENTATION: An 82-day-old girl was referred to our hospital because of a rapidly growing left upper arm mass. She had received three doses of oral vitamin K before age 1 month. At age 66 days, she received a pneumococcal vaccination in her left upper arm. On presentation, she showed no left wrist or finger extension. Blood examination revealed direct hyperbilirubinemia, liver dysfunction, and coagulation abnormalities, indicating obstructive jaundice. Magnetic resonance imaging showed a hematoma in the left triceps brachii. Abdominal ultrasonography revealed an atrophic gallbladder and the triangular cord sign anterior to the portal vein bifurcation. BA was confirmed on cholangiography. VKDB resulting from BA in conjunction with vaccination in the left upper arm were considered the cause of the hematoma. The hematoma was considered the cause of her radial nerve palsy. Although she underwent Kasai hepatic portoenterostomy at age 82 days, the obstructive jaundice did not sufficiently improve. She then underwent living-related liver transplantation at age 8 months. The wrist drop was still present at age 1 year despite hematoma resolution. CONCLUSIONS: Delayed detection of BA and inadequate prevention of VKDB can result in permanent peripheral neuropathy.

An Exploratory Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS): Protocol for a Multicenter, Open-Labeled, 24-Week, Single-Group Study.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, with its currently approved drugs, including riluzole and edaravone, showing limited therapeutic effects. Therefore, safe and effective drugs are urgently necessary. EPI-589 is an orally available, small-molecule, novel redox-active agent characterized by highly potent protective effects against oxidative stress with high blood-brain barrier permeability. Given the apparent oxidative stress and mitochondrial dysfunction involvement in the pathogenesis of ALS, EPI-589 may hold promise as a therapeutic agent. OBJECTIVE: This protocol aims to describe the design and rationale for the EPI-589 Early Phase 2 Investigator-Initiated Clinical Trial for ALS (EPIC-ALS). METHODS: EPIC-ALS is an explorative, open-labeled, single-arm trial that evaluates the safety and tolerability of EPI-589 in patients with ALS. This trial consists of 12-week run-in, 24-week treatment, and 4-week follow-up periods. Patients will receive 500 mg of EPI-589 3 times daily over the 24-week treatment period. Clinical assessments include the mean monthly change of Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised total score. The biomarkers are selected to analyze the effect on oxidative stress and neuronal damage. The plasma biomarkers are 8-hydroxy-2'-deoxyguanosine (8-OHdG), 3-nitrotyrosine (3-NT), neurofilament light chain (NfL), phosphorylated neurofilament heavy chain (pNfH), homocysteine, and creatinine. The cerebrospinal fluid biomarkers are 8-OHdG, 3-NT, NfL, pNfH, and ornithine. The magnetic resonance biomarkers are fractional anisotropy in the corticospinal tract and N-acetylaspartate in the primary motor area. RESULTS: This trial began data collection in September 2021 and is expected to be completed in October 2023. CONCLUSIONS: This study can provide useful data to understand the characteristics of EPI-589. TRIAL REGISTRATION: Japan Primary Registries Network jRCT2061210031; tinyurl.com/2p84emu6. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/42032.

[Clinical Features of Common Types of Dystonia and Practical Approach for Occupational Dystonia].

Dystonia is a movement disorder characterized by sustained muscle contractions that result in abnormal "patterned" movements and/or postural abnormalities. Based on the accompanying symptoms, dystonia can be classified as isolated (i.e., with dystonia only), combined (i.e., with other movement disorders such as myoclonus), or complex (i.e., with symptoms other than movement disorders such as mental retardation). Moreover, dystonia may affect single or multiple parts of the body and accordingly be classified as focal, segmental, multifocal, hemi, or generalized. The most common type of dystonia is isolated focal dystonia, often accompanied with a specific action (task-specific action). The "task-specificity" uniquely illustrates the nature of dystonia, and this phenomenon is most clearly observed in occupation-related dystonias that include musician's and athlete's dystonia. In this article, we first elucidate the general issues of common focal dystonia (cervical dystonia, blepharospasm, and focal hand dystonia) and then present several educational cases of occupational (task-specific) dystonia with some clinical pearls for practical management.

A Pilot Study of A2NTX, a Novel Low-Molecular-Weight Neurotoxin Derived from Subtype A2 for Post-Stroke Lower Limb Spasticity: Comparison with OnabotulinumtoxinA.

All the currently used type A botulinum neurotoxins for clinical uses are of subtype A1. We compared the efficacy and safety for the first time head-to-head between a novel botulinum toxin A2NTX prepared from subtype A2 and onabotulinumtoxinA (BOTOX) derived from A1 for post-stroke spasticity. We assessed the modified Ashworth scale (MAS) of the ankle joint, the mobility scores of Functional Independence Measure (FIM), and the grip power of the unaffected hand before and after injecting 300 units of BOTOX or A2NTX into calf muscles. The procedure was done in a blinded manner for the patient, the injecting physician, and the examiner. Stroke patients with chronic spastic hemiparesis (15 for A2NTX and 16 for BOTOX) were enrolled, and 11 for A2NTX and 13 for BOTOX (MAS of ankle; > or = 2) were entered for the MAS study. Area-under-curves of changes in MAS (primary outcome) were greater for A2NTX by day 30 (p = 0.044), and were similar by day 60. FIM was significantly improved in the A2NTX group (p = 0.005), but not in the BOTOX group by day 60. The hand grip of the unaffected limb was significantly decreased in the BOTOX-injected group (p = 0.002), but was unaffected in the A2NTX-injected group by day 60, suggesting there was less spread of A2NTX to the upper limb than there was with BOTOX. Being a small-sized pilot investigation with an imbalance in the gender of the subjects, the present study suggested superior efficacy and safety of A2NTX, and warrants a larger scale clinical trial of A2NTX to confirm these preliminary results.

Dystonia: Still a Mysterious Syndrome.

The diagnosis of dystonia is sometimes complicated due to its many clinical manifestations, causes, and the lack of specific diagnostic examinations or simple algorithms [...].

Risk factors for shoulder osteoarthritis with rotator cuff tear in the elderly general population.

HYPOTHESIS AND/OR BACKGROUND: The relationship between shoulder osteoarthritis (OA) and rotator cuff tear (RCT) is unclear. We hypothesized that there is a difference between the pathogenesis of OA complicating RCT and that of RCT complicating OA. In this study, our primary objective was to determine the prevalence of shoulder OA without RCT, RCT without OA, and OA with RCT in the general older population. Our secondary objective was to identify risk factors for the association with OA+RCT in shoulder OA alone or RCT alone, respectively. METHODS: We enrolled patients from the public health checkup conducted in Gunma prefecture (Japan) in 2014. Subjects' shoulder pain at rest, during motion, and at night was evaluated using a questionnaire. Moreover, active and passive range of motions (ROMs) in flexion, abduction, and external rotation were measured. For RCT parameters, we evaluated as no tear, partial-thickness supraspinatus (SSP) tear, full-thickness SSP tear, and SSP-infraspinatus tears. For further analysis, the shoulders were divided into three groups according to the presence of RCT and/or OA: OA, RCT, and OA + RCT groups. Risk factors for OA + RCT were identified in a logistic regression analysis. RESULTS: Overall, 944 of 1148 shoulders were eligible for inclusion. The prevalence rates of shoulder OA, RCT, and OA + RCT were 5.8%, 21.1%, and 4.2%, respectively. Furthermore, 650 shoulders were excluded, and 55, 199, and 40 shoulders had OA, RCT, and OA + RCT, respectively. There were significant differences for age, ROM of active external rotation, strength of abduction, external rotation, and morphology of the rotator tears. However, there were no significant differences for pain visual analog scale score, passive ROM, Simple Shoulder Test, and grades of OA. Older age decreased active ROM in external rotation, and the presence of both subscapularis and SSP-infraspinatus tears was a risk factor for the association of OA with an RCT shoulder. Older age, weaker power in external rotation, and affected dominant side were risk factors for the association of RCT with an OA shoulder. DISCUSSION AND/OR CONCLUSION: This study is the first to report risk factors by considering both shoulder OA and RCT in the general population. Our findings will be useful for the treatment and management of OA and RCT as well as for the prevention of these conditions in the older adults.

Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.

Importance: The effectiveness of currently approved drugs for amyotrophic lateral sclerosis (ALS) is restricted; there is a need to develop further treatments. Initial studies have shown ultrahigh-dose methylcobalamin to be a promising agent. Objective: To validate the efficacy and safety of ultrahigh-dose methylcobalamin for patients with ALS enrolled within 1 year of onset. Design, Setting, and Participants: This was a multicenter, placebo-controlled, double-blind, randomized phase 3 clinical trial with a 12-week observation and 16-week randomized period, conducted from October 17, 2017, to September 30, 2019. Patients were recruited from 25 neurology centers in Japan; those with ALS diagnosed within 1 year of onset by the updated Awaji criteria were initially enrolled. Of those, patients fulfilling the following criteria after 12-week observation were eligible for randomization: 1- or 2-point decrease in the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) total score, a percent forced vital capacity greater than 60%, no history of noninvasive respiratory support and tracheostomy, and being ambulatory. The target participant number was 64 in both the methylcobalamin and placebo groups. Patients were randomly assigned through an electronic web-response system to methylcobalamin or placebo. Interventions: Intramuscular injection of methylcobalamin (50-mg dose) or placebo twice weekly for 16 weeks. Main Outcomes and Measures: The primary end point was change in ALSFRS-R total score from baseline to week 16 in the full analysis set. Results: A total of 130 patients (mean [SD] age, 61.0 [11.7] years; 74 men [56.9%]) were randomly assigned to methylcobalamin or placebo (65 each). A total of 129 patients were eligible for the full analysis set, and 126 completed the double-blind stage. Of these, 124 patients proceeded to the open-label extended period. The least square means difference in ALSFRS-R total score at week 16 of the randomized period was 1.97 points greater with methylcobalamin than placebo (-2.66 vs -4.63; 95% CI, 0.44-3.50; P = .01). The incidence of adverse events was similar between the 2 groups. Conclusions and Relevance: Results of this randomized clinical trial showed that ultrahigh-dose methylcobalamin was efficacious in slowing functional decline in patients with early-stage ALS and with moderate progression rate and was safe to use during the 16-week treatment period. Trial Registration: ClinicalTrials.gov Identifier: NCT03548311.

Truncal dystonia with isolated middle cerebral artery ischemia: A case report of revascularization therapy for dystonia.

Background: Dystonia is a rare movement disorder with some cases being difficult to treat. Although dystonia can occur as a symptom of moyamoya disease, few studies have reported truncal dystonia occurring with middle cerebral artery (MCA) stenosis. Here, we report a case of truncal dystonia with MCA occlusion. Case Description: The patient was a 48-year-old female clerical worker who lived alone. An abnormal cervical posture initially appeared 7 years before (right flexion). Symptoms improved with medication and botulinum toxin injection. Five years before this report, her symptoms worsened, so the dose of oral medication was increased and botulinum treatment was performed, but the symptoms did not improve. The patient showed decreased cerebral blood flow (CBF) in the cortical areas but not in the basal ganglia. We performed superficial temporal artery-MCA bypass surgery because we believed that the dystonia was due to right MCA stenosis. The patient's symptoms improved immediately after surgery, except for her mild cervical backbend. Seven months after the surgery, the patient's involuntary movements showed further improvement, and symptoms have not worsened even after 2 years. Conclusion: Revascularization therapy improved CBF and truncal dystonia and could be a viable treatment option for dystonia with ischemia in the MCA region. Extensive cerebral ischemia can result in cortical inhibition loss or over-adapted cerebral plasticity and cause dystonia. Revascularization therapy may be useful for patients with dystonia and decreased CBF in the MCA region.

The Relationship Between Dynamic Balance Ability and Shoulder Pain in High School Baseball Pitchers.

BACKGROUND: Dynamic balance is essential for pitching motion because pitching kinematics requires whole body coordination. The Star Excursion Balance Test (SEBT) and the Y balance test (YBT) evaluate dynamic balance quantitatively. There are some reports that investigated the relationship between SEBT/YBT and pain in upper and lower extremities, but there is no study among high school baseball pitchers. HYPOTHESIS: Dynamic balance deficiency is associated with shoulder pain among high school baseball pitchers. STUDY DESIGN: Cross-sectional study. LEVEL OF EVIDENCE: Level 4. METHODS: A total of 259 male high school pitchers who participated in the preseason medical checkups were included in the study. YBT was used to measure their dynamic balance. The participants completed a questionnaire which asked if they were currently experiencing shoulder pain. RESULTS: Twenty-two pitchers had shoulder pain during the preseason medical checkups. In the YBT, the posterolateral balance while standing with the axis leg as well as the posteromedial and posterolateral balance while standing with the step leg were significantly lower in the pain group than in the nonpain group (P = 0.05, 0.04, and 0.001, respectively). A logistic regression analysis showed that posterolateral balance when standing with the step leg was an independent risk factor for current shoulder pain (P = 0.04, odds ratio 0.942, 95% CI 0.892-0.996). CONCLUSION: The dynamic balance of high school baseball pitchers with shoulder pain was lower than that of participants without shoulder pain. In particular, posterolateral direction with the step leg standing was significantly related to shoulder pain. CLINICAL RELEVANCE: Among high school baseball pitchers, decreased dynamic balance was related to current shoulder pain. YBT maybe recommended in preseason medical checkups for high school baseball pitchers.

Serum free carnitine levels in children with Kawasaki disease.

BACKGROUND: Carnitine plays an essential role in the transfer of long-chain fatty acids to the mitochondria for ß-oxidation. No study has characterized carnitine in children with Kawasaki disease (KD). The objective of this study was to elucidate the characteristics of serum free carnitine (FC) in hospitalized pediatric patients with KD. METHODS: We retrospectively analyzed 45 patients with KD in whom serum FC levels were measured. We investigated the clinical and laboratory parameters before intravenous immunoglobulin was administered, including serum FC levels, according to the response to intravenous immunoglobulin (IVIG). We also analyzed the relationship among serum FC, laboratory data, and clinical variables. RESULTS: IVIG was effective in 33 children (responders) and was ineffective in 12 children (non-responders). Serum FC levels were higher in non-responders than in responders: 35.3 µmol/L (range, 26.8-118.4 µmol/L) vs 31.4 µmol/L (range, 20.9-81.2 µmol/L), P <0.05. FC levels before IVIG in 80% of responders were below the normal range. The levels of aspartate aminotransferase (AST), alanine aminotransferase (ALT), total bilirubin, and FC were higher in non-responders than in responders. FC levels were correlated with AST (R2 = 0.364, P = 0.0015) and ALT (R2 = 0.423, P < 0.001) levels. CONCLUSIONS: Free carnitine levels were elevated in some patients with KD, especially in those who were refractory to IVIG. Additionally, FC levels in children with KD correlated with ASL and ALT levels.

Usefulness of brain natriuretic peptide to distinguish Kawasaki disease from cervical lymphadenitis.

BACKGROUND: Cervical lymphadenitis (CL) cannot be easily distinguished from Kawasaki disease (KD). We therefore explored whether brain natriuretic peptide (BNP) levels are useful in this context. METHODS: We retrospectively analyzed 14 children with CL and 177 children with KD. Patients with KD were divided into three groups according to their clinical symptoms at hospitalization - 97 patients had typical KD, 35 had node-first KD (NFKD), and 45 had KD without lymphadenopathy. We reviewed data on clinical and laboratory parameters, including serum BNP levels, at hospitalization together with factors that might distinguish KD from CL. RESULTS: Patients with CL were older than those with KD. Serum BNP levels were higher in all the KD groups than in the CL group. Multivariate logistic regression analyses indicated that higher BNP levels were associated with NFKD (odds ratio: 1.12, 95% confidence interval: 1.01-1.25). The receiver operating characteristic curve yielded a BNP cutoff of 18.3 pg/mL, with a sensitivity of 0.680, a specificity of 0.857, and an area under the curve of 0.806 (95% confidence interval: 0.665-0.947). CONCLUSIONS: Serum BNP levels can be used to distinguish KD from CL, especially in patients with NFKD.

Usefulness of Q-Probe PCR in Detecting Macrolide-Resistant Mycoplasma pneumoniae Infection in Children.

To investigate the usefulness of quenching probe polymerase chain reaction (Q-probe PCR) for the detection of macrolide-resistant Mycoplasma pneumoniae (MP), we retrospectively analyzed the clinical course of 21 children with MP infection. The rate of macrolide-resistant MP was 66.7%. The duration of pyrexia after the initial antibiotic treatment was longer in patients with macrolide-resistant MP infection than in those with macrolide-sensitive MP infection. The duration of pyrexia after Q-probe PCR was not significantly different between patients with macrolide-resistant and -sensitive MP infection. Antibiotic use based on qPCR may reduce the duration of pyrexia. Q-probe PCR is useful in determining the appropriate antibiotics and improves the clinical course of MP infections.